NM_007294.4(BRCA1):c.4649C>T (p.Thr1550Ile) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Uncertain significance (5 submissions)
Last evaluated:: Jun 28, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000112373.9

Allele description [Variation Report for NM_007294.4(BRCA1):c.4649C>T (p.Thr1550Ile)]

NM_007294.4(BRCA1):c.4649C>T (p.Thr1550Ile)

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.4649C>T (p.Thr1550Ile)

Other names:

p.T1550I:ACA>ATA

HGVS:

NC_000017.11:g.43074357G>A
NG_005905.2:g.143627C>T
NM_001407571.1:c.4436C>T
NM_001407581.1:c.4715C>T
NM_001407582.1:c.4715C>T
NM_001407583.1:c.4712C>T
NM_001407585.1:c.4712C>T
NM_001407587.1:c.4712C>T
NM_001407590.1:c.4709C>T
NM_001407591.1:c.4709C>T
NM_001407593.1:c.4649C>T
NM_001407594.1:c.4649C>T
NM_001407596.1:c.4649C>T
NM_001407597.1:c.4649C>T
NM_001407598.1:c.4649C>T
NM_001407602.1:c.4649C>T
NM_001407603.1:c.4649C>T
NM_001407605.1:c.4649C>T
NM_001407610.1:c.4646C>T
NM_001407611.1:c.4646C>T
NM_001407612.1:c.4646C>T
NM_001407613.1:c.4646C>T
NM_001407614.1:c.4646C>T
NM_001407615.1:c.4646C>T
NM_001407616.1:c.4646C>T
NM_001407617.1:c.4646C>T
NM_001407618.1:c.4646C>T
NM_001407619.1:c.4646C>T
NM_001407620.1:c.4646C>T
NM_001407621.1:c.4646C>T
NM_001407622.1:c.4646C>T
NM_001407623.1:c.4646C>T
NM_001407624.1:c.4646C>T
NM_001407625.1:c.4646C>T
NM_001407626.1:c.4646C>T
NM_001407627.1:c.4643C>T
NM_001407628.1:c.4643C>T
NM_001407629.1:c.4643C>T
NM_001407630.1:c.4643C>T
NM_001407631.1:c.4643C>T
NM_001407632.1:c.4643C>T
NM_001407633.1:c.4643C>T
NM_001407634.1:c.4643C>T
NM_001407635.1:c.4643C>T
NM_001407636.1:c.4643C>T
NM_001407637.1:c.4643C>T
NM_001407638.1:c.4643C>T
NM_001407639.1:c.4643C>T
NM_001407640.1:c.4643C>T
NM_001407641.1:c.4643C>T
NM_001407642.1:c.4643C>T
NM_001407644.1:c.4640C>T
NM_001407645.1:c.4640C>T
NM_001407646.1:c.4637C>T
NM_001407647.1:c.4634C>T
NM_001407648.1:c.4592C>T
NM_001407649.1:c.4589C>T
NM_001407652.1:c.4649C>T
NM_001407653.1:c.4571C>T
NM_001407654.1:c.4571C>T
NM_001407655.1:c.4571C>T
NM_001407656.1:c.4568C>T
NM_001407657.1:c.4568C>T
NM_001407658.1:c.4568C>T
NM_001407659.1:c.4565C>T
NM_001407660.1:c.4565C>T
NM_001407661.1:c.4565C>T
NM_001407662.1:c.4565C>T
NM_001407663.1:c.4565C>T
NM_001407664.1:c.4526C>T
NM_001407665.1:c.4526C>T
NM_001407666.1:c.4526C>T
NM_001407667.1:c.4526C>T
NM_001407668.1:c.4526C>T
NM_001407669.1:c.4526C>T
NM_001407670.1:c.4523C>T
NM_001407671.1:c.4523C>T
NM_001407672.1:c.4523C>T
NM_001407673.1:c.4523C>T
NM_001407674.1:c.4523C>T
NM_001407675.1:c.4523C>T
NM_001407676.1:c.4523C>T
NM_001407677.1:c.4523C>T
NM_001407678.1:c.4523C>T
NM_001407679.1:c.4523C>T
NM_001407680.1:c.4523C>T
NM_001407681.1:c.4520C>T
NM_001407682.1:c.4520C>T
NM_001407683.1:c.4520C>T
NM_001407684.1:c.4649C>T
NM_001407685.1:c.4520C>T
NM_001407686.1:c.4520C>T
NM_001407687.1:c.4520C>T
NM_001407688.1:c.4520C>T
NM_001407689.1:c.4520C>T
NM_001407690.1:c.4517C>T
NM_001407691.1:c.4517C>T
NM_001407692.1:c.4508C>T
NM_001407694.1:c.4508C>T
NM_001407695.1:c.4508C>T
NM_001407696.1:c.4508C>T
NM_001407697.1:c.4508C>T
NM_001407698.1:c.4508C>T
NM_001407724.1:c.4508C>T
NM_001407725.1:c.4508C>T
NM_001407726.1:c.4508C>T
NM_001407727.1:c.4508C>T
NM_001407728.1:c.4508C>T
NM_001407729.1:c.4508C>T
NM_001407730.1:c.4508C>T
NM_001407731.1:c.4508C>T
NM_001407732.1:c.4505C>T
NM_001407733.1:c.4505C>T
NM_001407734.1:c.4505C>T
NM_001407735.1:c.4505C>T
NM_001407736.1:c.4505C>T
NM_001407737.1:c.4505C>T
NM_001407738.1:c.4505C>T
NM_001407739.1:c.4505C>T
NM_001407740.1:c.4505C>T
NM_001407741.1:c.4505C>T
NM_001407742.1:c.4505C>T
NM_001407743.1:c.4505C>T
NM_001407744.1:c.4505C>T
NM_001407745.1:c.4505C>T
NM_001407746.1:c.4505C>T
NM_001407747.1:c.4505C>T
NM_001407748.1:c.4505C>T
NM_001407749.1:c.4505C>T
NM_001407750.1:c.4505C>T
NM_001407751.1:c.4505C>T
NM_001407752.1:c.4505C>T
NM_001407838.1:c.4502C>T
NM_001407839.1:c.4502C>T
NM_001407841.1:c.4502C>T
NM_001407842.1:c.4502C>T
NM_001407843.1:c.4502C>T
NM_001407844.1:c.4502C>T
NM_001407845.1:c.4502C>T
NM_001407846.1:c.4502C>T
NM_001407847.1:c.4502C>T
NM_001407848.1:c.4502C>T
NM_001407849.1:c.4502C>T
NM_001407850.1:c.4502C>T
NM_001407851.1:c.4502C>T
NM_001407852.1:c.4502C>T
NM_001407853.1:c.4502C>T
NM_001407854.1:c.4649C>T
NM_001407858.1:c.4646C>T
NM_001407859.1:c.4646C>T
NM_001407860.1:c.4646C>T
NM_001407861.1:c.4643C>T
NM_001407862.1:c.4448C>T
NM_001407863.1:c.4523C>T
NM_001407874.1:c.4442C>T
NM_001407875.1:c.4442C>T
NM_001407879.1:c.4439C>T
NM_001407881.1:c.4439C>T
NM_001407882.1:c.4439C>T
NM_001407884.1:c.4439C>T
NM_001407885.1:c.4439C>T
NM_001407886.1:c.4439C>T
NM_001407887.1:c.4439C>T
NM_001407889.1:c.4439C>T
NM_001407894.1:c.4436C>T
NM_001407895.1:c.4436C>T
NM_001407896.1:c.4436C>T
NM_001407897.1:c.4436C>T
NM_001407898.1:c.4436C>T
NM_001407899.1:c.4436C>T
NM_001407900.1:c.4436C>T
NM_001407902.1:c.4436C>T
NM_001407904.1:c.4436C>T
NM_001407906.1:c.4436C>T
NM_001407907.1:c.4436C>T
NM_001407908.1:c.4436C>T
NM_001407909.1:c.4436C>T
NM_001407910.1:c.4436C>T
NM_001407915.1:c.4433C>T
NM_001407916.1:c.4433C>T
NM_001407917.1:c.4433C>T
NM_001407918.1:c.4433C>T
NM_001407919.1:c.4526C>T
NM_001407920.1:c.4385C>T
NM_001407921.1:c.4385C>T
NM_001407922.1:c.4385C>T
NM_001407923.1:c.4385C>T
NM_001407924.1:c.4385C>T
NM_001407925.1:c.4385C>T
NM_001407926.1:c.4385C>T
NM_001407927.1:c.4382C>T
NM_001407928.1:c.4382C>T
NM_001407929.1:c.4382C>T
NM_001407930.1:c.4382C>T
NM_001407931.1:c.4382C>T
NM_001407932.1:c.4382C>T
NM_001407933.1:c.4382C>T
NM_001407934.1:c.4379C>T
NM_001407935.1:c.4379C>T
NM_001407936.1:c.4379C>T
NM_001407937.1:c.4526C>T
NM_001407938.1:c.4526C>T
NM_001407939.1:c.4523C>T
NM_001407940.1:c.4523C>T
NM_001407941.1:c.4520C>T
NM_001407942.1:c.4508C>T
NM_001407943.1:c.4505C>T
NM_001407944.1:c.4505C>T
NM_001407945.1:c.4505C>T
NM_001407946.1:c.4316C>T
NM_001407947.1:c.4316C>T
NM_001407948.1:c.4316C>T
NM_001407949.1:c.4316C>T
NM_001407950.1:c.4313C>T
NM_001407951.1:c.4313C>T
NM_001407952.1:c.4313C>T
NM_001407953.1:c.4313C>T
NM_001407954.1:c.4313C>T
NM_001407955.1:c.4313C>T
NM_001407956.1:c.4310C>T
NM_001407957.1:c.4310C>T
NM_001407958.1:c.4310C>T
NM_001407959.1:c.4268C>T
NM_001407960.1:c.4265C>T
NM_001407962.1:c.4265C>T
NM_001407963.1:c.4262C>T
NM_001407965.1:c.4142C>T
NM_001407966.1:c.3761C>T
NM_001407967.1:c.3758C>T
NM_001407968.1:c.2045C>T
NM_001407969.1:c.2042C>T
NM_001407970.1:c.1406C>T
NM_001407971.1:c.1406C>T
NM_001407972.1:c.1403C>T
NM_001407973.1:c.1340C>T
NM_001407974.1:c.1340C>T
NM_001407975.1:c.1340C>T
NM_001407976.1:c.1340C>T
NM_001407977.1:c.1340C>T
NM_001407978.1:c.1340C>T
NM_001407979.1:c.1337C>T
NM_001407980.1:c.1337C>T
NM_001407981.1:c.1337C>T
NM_001407982.1:c.1337C>T
NM_001407983.1:c.1337C>T
NM_001407984.1:c.1337C>T
NM_001407985.1:c.1337C>T
NM_001407986.1:c.1337C>T
NM_001407990.1:c.1337C>T
NM_001407991.1:c.1337C>T
NM_001407992.1:c.1337C>T
NM_001407993.1:c.1337C>T
NM_001408392.1:c.1334C>T
NM_001408396.1:c.1334C>T
NM_001408397.1:c.1334C>T
NM_001408398.1:c.1334C>T
NM_001408399.1:c.1334C>T
NM_001408400.1:c.1334C>T
NM_001408401.1:c.1334C>T
NM_001408402.1:c.1334C>T
NM_001408403.1:c.1334C>T
NM_001408404.1:c.1334C>T
NM_001408406.1:c.1331C>T
NM_001408407.1:c.1331C>T
NM_001408408.1:c.1331C>T
NM_001408409.1:c.1328C>T
NM_001408410.1:c.1265C>T
NM_001408411.1:c.1262C>T
NM_001408412.1:c.1259C>T
NM_001408413.1:c.1259C>T
NM_001408414.1:c.1259C>T
NM_001408415.1:c.1259C>T
NM_001408416.1:c.1259C>T
NM_001408418.1:c.1223C>T
NM_001408419.1:c.1223C>T
NM_001408420.1:c.1223C>T
NM_001408421.1:c.1220C>T
NM_001408422.1:c.1220C>T
NM_001408423.1:c.1220C>T
NM_001408424.1:c.1220C>T
NM_001408425.1:c.1217C>T
NM_001408426.1:c.1217C>T
NM_001408427.1:c.1217C>T
NM_001408428.1:c.1217C>T
NM_001408429.1:c.1217C>T
NM_001408430.1:c.1217C>T
NM_001408431.1:c.1217C>T
NM_001408432.1:c.1214C>T
NM_001408433.1:c.1214C>T
NM_001408434.1:c.1214C>T
NM_001408435.1:c.1214C>T
NM_001408436.1:c.1214C>T
NM_001408437.1:c.1214C>T
NM_001408438.1:c.1214C>T
NM_001408439.1:c.1214C>T
NM_001408440.1:c.1214C>T
NM_001408441.1:c.1214C>T
NM_001408442.1:c.1214C>T
NM_001408443.1:c.1214C>T
NM_001408444.1:c.1214C>T
NM_001408445.1:c.1211C>T
NM_001408446.1:c.1211C>T
NM_001408447.1:c.1211C>T
NM_001408448.1:c.1211C>T
NM_001408450.1:c.1211C>T
NM_001408451.1:c.1205C>T
NM_001408452.1:c.1199C>T
NM_001408453.1:c.1199C>T
NM_001408454.1:c.1199C>T
NM_001408455.1:c.1199C>T
NM_001408456.1:c.1199C>T
NM_001408457.1:c.1199C>T
NM_001408458.1:c.1196C>T
NM_001408459.1:c.1196C>T
NM_001408460.1:c.1196C>T
NM_001408461.1:c.1196C>T
NM_001408462.1:c.1196C>T
NM_001408463.1:c.1196C>T
NM_001408464.1:c.1196C>T
NM_001408465.1:c.1196C>T
NM_001408466.1:c.1196C>T
NM_001408467.1:c.1196C>T
NM_001408468.1:c.1193C>T
NM_001408469.1:c.1193C>T
NM_001408470.1:c.1193C>T
NM_001408472.1:c.1337C>T
NM_001408473.1:c.1334C>T
NM_001408474.1:c.1139C>T
NM_001408475.1:c.1136C>T
NM_001408476.1:c.1136C>T
NM_001408478.1:c.1130C>T
NM_001408479.1:c.1130C>T
NM_001408480.1:c.1130C>T
NM_001408481.1:c.1127C>T
NM_001408482.1:c.1127C>T
NM_001408483.1:c.1127C>T
NM_001408484.1:c.1127C>T
NM_001408485.1:c.1127C>T
NM_001408489.1:c.1127C>T
NM_001408490.1:c.1127C>T
NM_001408491.1:c.1127C>T
NM_001408492.1:c.1124C>T
NM_001408493.1:c.1124C>T
NM_001408494.1:c.1100C>T
NM_001408495.1:c.1094C>T
NM_001408496.1:c.1076C>T
NM_001408497.1:c.1076C>T
NM_001408498.1:c.1076C>T
NM_001408499.1:c.1076C>T
NM_001408500.1:c.1076C>T
NM_001408501.1:c.1076C>T
NM_001408502.1:c.1073C>T
NM_001408503.1:c.1073C>T
NM_001408504.1:c.1073C>T
NM_001408505.1:c.1070C>T
NM_001408506.1:c.1013C>T
NM_001408507.1:c.1010C>T
NM_001408508.1:c.1001C>T
NM_001408509.1:c.998C>T
NM_001408510.1:c.959C>T
NM_001408511.1:c.956C>T
NM_001408512.1:c.836C>T
NM_007294.4:c.4649C>TMANE SELECT
NM_007297.4:c.4508C>T
NM_007298.4:c.1337C>T
NM_007299.4:c.1337C>T
NM_007300.4:c.4712C>T
NM_007304.2:c.1337C>T
NP_001394500.1:p.Thr1479Ile
NP_001394510.1:p.Thr1572Ile
NP_001394511.1:p.Thr1572Ile
NP_001394512.1:p.Thr1571Ile
NP_001394514.1:p.Thr1571Ile
NP_001394516.1:p.Thr1571Ile
NP_001394519.1:p.Thr1570Ile
NP_001394520.1:p.Thr1570Ile
NP_001394522.1:p.Thr1550Ile
NP_001394523.1:p.Thr1550Ile
NP_001394525.1:p.Thr1550Ile
NP_001394526.1:p.Thr1550Ile
NP_001394527.1:p.Thr1550Ile
NP_001394531.1:p.Thr1550Ile
NP_001394532.1:p.Thr1550Ile
NP_001394534.1:p.Thr1550Ile
NP_001394539.1:p.Thr1549Ile
NP_001394540.1:p.Thr1549Ile
NP_001394541.1:p.Thr1549Ile
NP_001394542.1:p.Thr1549Ile
NP_001394543.1:p.Thr1549Ile
NP_001394544.1:p.Thr1549Ile
NP_001394545.1:p.Thr1549Ile
NP_001394546.1:p.Thr1549Ile
NP_001394547.1:p.Thr1549Ile
NP_001394548.1:p.Thr1549Ile
NP_001394549.1:p.Thr1549Ile
NP_001394550.1:p.Thr1549Ile
NP_001394551.1:p.Thr1549Ile
NP_001394552.1:p.Thr1549Ile
NP_001394553.1:p.Thr1549Ile
NP_001394554.1:p.Thr1549Ile
NP_001394555.1:p.Thr1549Ile
NP_001394556.1:p.Thr1548Ile
NP_001394557.1:p.Thr1548Ile
NP_001394558.1:p.Thr1548Ile
NP_001394559.1:p.Thr1548Ile
NP_001394560.1:p.Thr1548Ile
NP_001394561.1:p.Thr1548Ile
NP_001394562.1:p.Thr1548Ile
NP_001394563.1:p.Thr1548Ile
NP_001394564.1:p.Thr1548Ile
NP_001394565.1:p.Thr1548Ile
NP_001394566.1:p.Thr1548Ile
NP_001394567.1:p.Thr1548Ile
NP_001394568.1:p.Thr1548Ile
NP_001394569.1:p.Thr1548Ile
NP_001394570.1:p.Thr1548Ile
NP_001394571.1:p.Thr1548Ile
NP_001394573.1:p.Thr1547Ile
NP_001394574.1:p.Thr1547Ile
NP_001394575.1:p.Thr1546Ile
NP_001394576.1:p.Thr1545Ile
NP_001394577.1:p.Thr1531Ile
NP_001394578.1:p.Thr1530Ile
NP_001394581.1:p.Thr1550Ile
NP_001394582.1:p.Thr1524Ile
NP_001394583.1:p.Thr1524Ile
NP_001394584.1:p.Thr1524Ile
NP_001394585.1:p.Thr1523Ile
NP_001394586.1:p.Thr1523Ile
NP_001394587.1:p.Thr1523Ile
NP_001394588.1:p.Thr1522Ile
NP_001394589.1:p.Thr1522Ile
NP_001394590.1:p.Thr1522Ile
NP_001394591.1:p.Thr1522Ile
NP_001394592.1:p.Thr1522Ile
NP_001394593.1:p.Thr1509Ile
NP_001394594.1:p.Thr1509Ile
NP_001394595.1:p.Thr1509Ile
NP_001394596.1:p.Thr1509Ile
NP_001394597.1:p.Thr1509Ile
NP_001394598.1:p.Thr1509Ile
NP_001394599.1:p.Thr1508Ile
NP_001394600.1:p.Thr1508Ile
NP_001394601.1:p.Thr1508Ile
NP_001394602.1:p.Thr1508Ile
NP_001394603.1:p.Thr1508Ile
NP_001394604.1:p.Thr1508Ile
NP_001394605.1:p.Thr1508Ile
NP_001394606.1:p.Thr1508Ile
NP_001394607.1:p.Thr1508Ile
NP_001394608.1:p.Thr1508Ile
NP_001394609.1:p.Thr1508Ile
NP_001394610.1:p.Thr1507Ile
NP_001394611.1:p.Thr1507Ile
NP_001394612.1:p.Thr1507Ile
NP_001394613.1:p.Thr1550Ile
NP_001394614.1:p.Thr1507Ile
NP_001394615.1:p.Thr1507Ile
NP_001394616.1:p.Thr1507Ile
NP_001394617.1:p.Thr1507Ile
NP_001394618.1:p.Thr1507Ile
NP_001394619.1:p.Thr1506Ile
NP_001394620.1:p.Thr1506Ile
NP_001394621.1:p.Thr1503Ile
NP_001394623.1:p.Thr1503Ile
NP_001394624.1:p.Thr1503Ile
NP_001394625.1:p.Thr1503Ile
NP_001394626.1:p.Thr1503Ile
NP_001394627.1:p.Thr1503Ile
NP_001394653.1:p.Thr1503Ile
NP_001394654.1:p.Thr1503Ile
NP_001394655.1:p.Thr1503Ile
NP_001394656.1:p.Thr1503Ile
NP_001394657.1:p.Thr1503Ile
NP_001394658.1:p.Thr1503Ile
NP_001394659.1:p.Thr1503Ile
NP_001394660.1:p.Thr1503Ile
NP_001394661.1:p.Thr1502Ile
NP_001394662.1:p.Thr1502Ile
NP_001394663.1:p.Thr1502Ile
NP_001394664.1:p.Thr1502Ile
NP_001394665.1:p.Thr1502Ile
NP_001394666.1:p.Thr1502Ile
NP_001394667.1:p.Thr1502Ile
NP_001394668.1:p.Thr1502Ile
NP_001394669.1:p.Thr1502Ile
NP_001394670.1:p.Thr1502Ile
NP_001394671.1:p.Thr1502Ile
NP_001394672.1:p.Thr1502Ile
NP_001394673.1:p.Thr1502Ile
NP_001394674.1:p.Thr1502Ile
NP_001394675.1:p.Thr1502Ile
NP_001394676.1:p.Thr1502Ile
NP_001394677.1:p.Thr1502Ile
NP_001394678.1:p.Thr1502Ile
NP_001394679.1:p.Thr1502Ile
NP_001394680.1:p.Thr1502Ile
NP_001394681.1:p.Thr1502Ile
NP_001394767.1:p.Thr1501Ile
NP_001394768.1:p.Thr1501Ile
NP_001394770.1:p.Thr1501Ile
NP_001394771.1:p.Thr1501Ile
NP_001394772.1:p.Thr1501Ile
NP_001394773.1:p.Thr1501Ile
NP_001394774.1:p.Thr1501Ile
NP_001394775.1:p.Thr1501Ile
NP_001394776.1:p.Thr1501Ile
NP_001394777.1:p.Thr1501Ile
NP_001394778.1:p.Thr1501Ile
NP_001394779.1:p.Thr1501Ile
NP_001394780.1:p.Thr1501Ile
NP_001394781.1:p.Thr1501Ile
NP_001394782.1:p.Thr1501Ile
NP_001394783.1:p.Thr1550Ile
NP_001394787.1:p.Thr1549Ile
NP_001394788.1:p.Thr1549Ile
NP_001394789.1:p.Thr1549Ile
NP_001394790.1:p.Thr1548Ile
NP_001394791.1:p.Thr1483Ile
NP_001394792.1:p.Thr1508Ile
NP_001394803.1:p.Thr1481Ile
NP_001394804.1:p.Thr1481Ile
NP_001394808.1:p.Thr1480Ile
NP_001394810.1:p.Thr1480Ile
NP_001394811.1:p.Thr1480Ile
NP_001394813.1:p.Thr1480Ile
NP_001394814.1:p.Thr1480Ile
NP_001394815.1:p.Thr1480Ile
NP_001394816.1:p.Thr1480Ile
NP_001394818.1:p.Thr1480Ile
NP_001394823.1:p.Thr1479Ile
NP_001394824.1:p.Thr1479Ile
NP_001394825.1:p.Thr1479Ile
NP_001394826.1:p.Thr1479Ile
NP_001394827.1:p.Thr1479Ile
NP_001394828.1:p.Thr1479Ile
NP_001394829.1:p.Thr1479Ile
NP_001394831.1:p.Thr1479Ile
NP_001394833.1:p.Thr1479Ile
NP_001394835.1:p.Thr1479Ile
NP_001394836.1:p.Thr1479Ile
NP_001394837.1:p.Thr1479Ile
NP_001394838.1:p.Thr1479Ile
NP_001394839.1:p.Thr1479Ile
NP_001394844.1:p.Thr1478Ile
NP_001394845.1:p.Thr1478Ile
NP_001394846.1:p.Thr1478Ile
NP_001394847.1:p.Thr1478Ile
NP_001394848.1:p.Thr1509Ile
NP_001394849.1:p.Thr1462Ile
NP_001394850.1:p.Thr1462Ile
NP_001394851.1:p.Thr1462Ile
NP_001394852.1:p.Thr1462Ile
NP_001394853.1:p.Thr1462Ile
NP_001394854.1:p.Thr1462Ile
NP_001394855.1:p.Thr1462Ile
NP_001394856.1:p.Thr1461Ile
NP_001394857.1:p.Thr1461Ile
NP_001394858.1:p.Thr1461Ile
NP_001394859.1:p.Thr1461Ile
NP_001394860.1:p.Thr1461Ile
NP_001394861.1:p.Thr1461Ile
NP_001394862.1:p.Thr1461Ile
NP_001394863.1:p.Thr1460Ile
NP_001394864.1:p.Thr1460Ile
NP_001394865.1:p.Thr1460Ile
NP_001394866.1:p.Thr1509Ile
NP_001394867.1:p.Thr1509Ile
NP_001394868.1:p.Thr1508Ile
NP_001394869.1:p.Thr1508Ile
NP_001394870.1:p.Thr1507Ile
NP_001394871.1:p.Thr1503Ile
NP_001394872.1:p.Thr1502Ile
NP_001394873.1:p.Thr1502Ile
NP_001394874.1:p.Thr1502Ile
NP_001394875.1:p.Thr1439Ile
NP_001394876.1:p.Thr1439Ile
NP_001394877.1:p.Thr1439Ile
NP_001394878.1:p.Thr1439Ile
NP_001394879.1:p.Thr1438Ile
NP_001394880.1:p.Thr1438Ile
NP_001394881.1:p.Thr1438Ile
NP_001394882.1:p.Thr1438Ile
NP_001394883.1:p.Thr1438Ile
NP_001394884.1:p.Thr1438Ile
NP_001394885.1:p.Thr1437Ile
NP_001394886.1:p.Thr1437Ile
NP_001394887.1:p.Thr1437Ile
NP_001394888.1:p.Thr1423Ile
NP_001394889.1:p.Thr1422Ile
NP_001394891.1:p.Thr1422Ile
NP_001394892.1:p.Thr1421Ile
NP_001394894.1:p.Thr1381Ile
NP_001394895.1:p.Thr1254Ile
NP_001394896.1:p.Thr1253Ile
NP_001394897.1:p.Thr682Ile
NP_001394898.1:p.Thr681Ile
NP_001394899.1:p.Thr469Ile
NP_001394900.1:p.Thr469Ile
NP_001394901.1:p.Thr468Ile
NP_001394902.1:p.Thr447Ile
NP_001394903.1:p.Thr447Ile
NP_001394904.1:p.Thr447Ile
NP_001394905.1:p.Thr447Ile
NP_001394906.1:p.Thr447Ile
NP_001394907.1:p.Thr447Ile
NP_001394908.1:p.Thr446Ile
NP_001394909.1:p.Thr446Ile
NP_001394910.1:p.Thr446Ile
NP_001394911.1:p.Thr446Ile
NP_001394912.1:p.Thr446Ile
NP_001394913.1:p.Thr446Ile
NP_001394914.1:p.Thr446Ile
NP_001394915.1:p.Thr446Ile
NP_001394919.1:p.Thr446Ile
NP_001394920.1:p.Thr446Ile
NP_001394921.1:p.Thr446Ile
NP_001394922.1:p.Thr446Ile
NP_001395321.1:p.Thr445Ile
NP_001395325.1:p.Thr445Ile
NP_001395326.1:p.Thr445Ile
NP_001395327.1:p.Thr445Ile
NP_001395328.1:p.Thr445Ile
NP_001395329.1:p.Thr445Ile
NP_001395330.1:p.Thr445Ile
NP_001395331.1:p.Thr445Ile
NP_001395332.1:p.Thr445Ile
NP_001395333.1:p.Thr445Ile
NP_001395335.1:p.Thr444Ile
NP_001395336.1:p.Thr444Ile
NP_001395337.1:p.Thr444Ile
NP_001395338.1:p.Thr443Ile
NP_001395339.1:p.Thr422Ile
NP_001395340.1:p.Thr421Ile
NP_001395341.1:p.Thr420Ile
NP_001395342.1:p.Thr420Ile
NP_001395343.1:p.Thr420Ile
NP_001395344.1:p.Thr420Ile
NP_001395345.1:p.Thr420Ile
NP_001395347.1:p.Thr408Ile
NP_001395348.1:p.Thr408Ile
NP_001395349.1:p.Thr408Ile
NP_001395350.1:p.Thr407Ile
NP_001395351.1:p.Thr407Ile
NP_001395352.1:p.Thr407Ile
NP_001395353.1:p.Thr407Ile
NP_001395354.1:p.Thr406Ile
NP_001395355.1:p.Thr406Ile
NP_001395356.1:p.Thr406Ile
NP_001395357.1:p.Thr406Ile
NP_001395358.1:p.Thr406Ile
NP_001395359.1:p.Thr406Ile
NP_001395360.1:p.Thr406Ile
NP_001395361.1:p.Thr405Ile
NP_001395362.1:p.Thr405Ile
NP_001395363.1:p.Thr405Ile
NP_001395364.1:p.Thr405Ile
NP_001395365.1:p.Thr405Ile
NP_001395366.1:p.Thr405Ile
NP_001395367.1:p.Thr405Ile
NP_001395368.1:p.Thr405Ile
NP_001395369.1:p.Thr405Ile
NP_001395370.1:p.Thr405Ile
NP_001395371.1:p.Thr405Ile
NP_001395372.1:p.Thr405Ile
NP_001395373.1:p.Thr405Ile
NP_001395374.1:p.Thr404Ile
NP_001395375.1:p.Thr404Ile
NP_001395376.1:p.Thr404Ile
NP_001395377.1:p.Thr404Ile
NP_001395379.1:p.Thr404Ile
NP_001395380.1:p.Thr402Ile
NP_001395381.1:p.Thr400Ile
NP_001395382.1:p.Thr400Ile
NP_001395383.1:p.Thr400Ile
NP_001395384.1:p.Thr400Ile
NP_001395385.1:p.Thr400Ile
NP_001395386.1:p.Thr400Ile
NP_001395387.1:p.Thr399Ile
NP_001395388.1:p.Thr399Ile
NP_001395389.1:p.Thr399Ile
NP_001395390.1:p.Thr399Ile
NP_001395391.1:p.Thr399Ile
NP_001395392.1:p.Thr399Ile
NP_001395393.1:p.Thr399Ile
NP_001395394.1:p.Thr399Ile
NP_001395395.1:p.Thr399Ile
NP_001395396.1:p.Thr399Ile
NP_001395397.1:p.Thr398Ile
NP_001395398.1:p.Thr398Ile
NP_001395399.1:p.Thr398Ile
NP_001395401.1:p.Thr446Ile
NP_001395402.1:p.Thr445Ile
NP_001395403.1:p.Thr380Ile
NP_001395404.1:p.Thr379Ile
NP_001395405.1:p.Thr379Ile
NP_001395407.1:p.Thr377Ile
NP_001395408.1:p.Thr377Ile
NP_001395409.1:p.Thr377Ile
NP_001395410.1:p.Thr376Ile
NP_001395411.1:p.Thr376Ile
NP_001395412.1:p.Thr376Ile
NP_001395413.1:p.Thr376Ile
NP_001395414.1:p.Thr376Ile
NP_001395418.1:p.Thr376Ile
NP_001395419.1:p.Thr376Ile
NP_001395420.1:p.Thr376Ile
NP_001395421.1:p.Thr375Ile
NP_001395422.1:p.Thr375Ile
NP_001395423.1:p.Thr367Ile
NP_001395424.1:p.Thr365Ile
NP_001395425.1:p.Thr359Ile
NP_001395426.1:p.Thr359Ile
NP_001395427.1:p.Thr359Ile
NP_001395428.1:p.Thr359Ile
NP_001395429.1:p.Thr359Ile
NP_001395430.1:p.Thr359Ile
NP_001395431.1:p.Thr358Ile
NP_001395432.1:p.Thr358Ile
NP_001395433.1:p.Thr358Ile
NP_001395434.1:p.Thr357Ile
NP_001395435.1:p.Thr338Ile
NP_001395436.1:p.Thr337Ile
NP_001395437.1:p.Thr334Ile
NP_001395438.1:p.Thr333Ile
NP_001395439.1:p.Thr320Ile
NP_001395440.1:p.Thr319Ile
NP_001395441.1:p.Thr279Ile
NP_009225.1:p.Thr1550Ile
NP_009225.1:p.Thr1550Ile
NP_009228.2:p.Thr1503Ile
NP_009229.2:p.Thr446Ile
NP_009229.2:p.Thr446Ile
NP_009230.2:p.Thr446Ile
NP_009231.2:p.Thr1571Ile
NP_009235.2:p.Thr446Ile
LRG_292t1:c.4649C>T
LRG_292:g.143627C>T
LRG_292p1:p.Thr1550Ile
NC_000017.10:g.41226374G>A
NM_007294.3(BRCA1):c.4649C>T
NM_007294.3:c.4649C>T
NM_007298.3:c.1337C>T
NR_027676.2:n.4826C>T
U14680.1:n.4768C>T
p.T1550I

Protein change:

T1253I

Links:

dbSNP: rs80357076

NCBI 1000 Genomes Browser:

rs80357076

Molecular consequence:

NM_001407571.1:c.4436C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.4715C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.4715C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.4712C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.4712C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.4712C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.4709C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.4709C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.4649C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.4649C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.4649C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.4649C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.4649C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.4649C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.4649C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.4649C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.4646C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.4646C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.4646C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.4646C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.4646C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.4646C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.4646C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.4646C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.4646C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.4646C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.4646C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.4646C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.4646C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.4646C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.4646C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.4646C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.4646C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.4643C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.4643C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.4643C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.4643C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.4643C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.4643C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.4643C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.4643C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.4643C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.4643C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.4643C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.4643C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.4643C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.4643C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.4643C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.4643C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.4640C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.4640C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.4637C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.4634C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.4592C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.4589C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.4649C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.4571C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.4571C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.4571C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.4568C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.4568C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.4568C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.4565C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.4565C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.4565C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.4565C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.4565C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.4526C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.4526C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.4526C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.4526C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.4526C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.4526C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.4523C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.4523C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.4523C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.4523C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.4523C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.4523C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.4523C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.4523C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.4523C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.4523C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.4523C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.4520C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.4520C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.4520C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.4649C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.4520C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.4520C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.4520C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.4520C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.4520C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.4517C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.4517C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.4508C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.4508C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.4508C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.4508C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.4508C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.4508C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.4508C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.4508C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.4508C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.4508C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.4508C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.4508C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.4508C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.4508C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.4505C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.4505C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.4505C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.4505C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.4505C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.4505C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.4505C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.4505C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.4505C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.4505C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.4505C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.4505C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.4505C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.4505C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.4505C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.4505C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.4505C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.4505C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.4505C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.4505C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.4505C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.4502C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.4502C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.4502C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.4502C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.4502C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.4502C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.4502C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.4502C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.4502C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.4502C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.4502C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.4502C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.4502C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.4502C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.4502C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.4649C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.4646C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.4646C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.4646C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.4643C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.4448C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.4523C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.4442C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.4442C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.4439C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.4439C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.4439C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.4439C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.4439C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.4439C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.4439C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.4439C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.4436C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.4436C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.4436C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.4436C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.4436C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.4436C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.4436C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.4436C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.4436C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.4436C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.4436C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.4436C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.4436C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.4436C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.4433C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.4433C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.4433C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.4433C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.4526C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.4385C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.4385C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.4385C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.4385C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.4385C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.4385C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.4385C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.4382C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.4382C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.4382C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.4382C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.4382C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.4382C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.4382C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.4379C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.4379C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.4379C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.4526C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.4526C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.4523C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.4523C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.4520C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.4508C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.4505C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.4505C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.4505C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.4316C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.4316C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.4316C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.4316C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.4313C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.4313C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.4313C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.4313C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.4313C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.4313C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.4310C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.4310C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.4310C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.4268C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.4265C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.4265C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.4262C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.4142C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.3761C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.3758C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407968.1:c.2045C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407969.1:c.2042C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407970.1:c.1406C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407971.1:c.1406C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407972.1:c.1403C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407973.1:c.1340C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407974.1:c.1340C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407975.1:c.1340C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407976.1:c.1340C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407977.1:c.1340C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407978.1:c.1340C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407979.1:c.1337C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407980.1:c.1337C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407981.1:c.1337C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407982.1:c.1337C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407983.1:c.1337C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407984.1:c.1337C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407985.1:c.1337C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407986.1:c.1337C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407990.1:c.1337C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407991.1:c.1337C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407992.1:c.1337C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407993.1:c.1337C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408392.1:c.1334C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408396.1:c.1334C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408397.1:c.1334C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408398.1:c.1334C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408399.1:c.1334C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408400.1:c.1334C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408401.1:c.1334C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408402.1:c.1334C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408403.1:c.1334C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408404.1:c.1334C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408406.1:c.1331C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408407.1:c.1331C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408408.1:c.1331C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408409.1:c.1328C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408410.1:c.1265C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408411.1:c.1262C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408412.1:c.1259C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408413.1:c.1259C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408414.1:c.1259C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408415.1:c.1259C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408416.1:c.1259C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408418.1:c.1223C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408419.1:c.1223C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408420.1:c.1223C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408421.1:c.1220C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408422.1:c.1220C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408423.1:c.1220C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408424.1:c.1220C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408425.1:c.1217C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408426.1:c.1217C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408427.1:c.1217C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408428.1:c.1217C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408429.1:c.1217C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408430.1:c.1217C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408431.1:c.1217C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408432.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408433.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408434.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408435.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408436.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408437.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408438.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408439.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408440.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408441.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408442.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408443.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408444.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408445.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408446.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408447.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408448.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408450.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408451.1:c.1205C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408452.1:c.1199C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408453.1:c.1199C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408454.1:c.1199C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408455.1:c.1199C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408456.1:c.1199C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408457.1:c.1199C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408458.1:c.1196C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408459.1:c.1196C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408460.1:c.1196C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408461.1:c.1196C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408462.1:c.1196C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408463.1:c.1196C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408464.1:c.1196C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408465.1:c.1196C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408466.1:c.1196C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408467.1:c.1196C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408468.1:c.1193C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408469.1:c.1193C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408470.1:c.1193C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408472.1:c.1337C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408473.1:c.1334C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408474.1:c.1139C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408475.1:c.1136C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408476.1:c.1136C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408478.1:c.1130C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408479.1:c.1130C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408480.1:c.1130C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408481.1:c.1127C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408482.1:c.1127C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408483.1:c.1127C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408484.1:c.1127C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408485.1:c.1127C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408489.1:c.1127C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408490.1:c.1127C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408491.1:c.1127C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408492.1:c.1124C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408493.1:c.1124C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408494.1:c.1100C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408495.1:c.1094C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408496.1:c.1076C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408497.1:c.1076C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408498.1:c.1076C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408499.1:c.1076C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408500.1:c.1076C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408501.1:c.1076C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408502.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408503.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408504.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408505.1:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408506.1:c.1013C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408507.1:c.1010C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408508.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408509.1:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408510.1:c.959C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408511.1:c.956C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408512.1:c.836C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.4649C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.4508C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007298.4:c.1337C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007299.4:c.1337C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.4712C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007304.2:c.1337C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_027676.2:n.4826C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000145139	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Uncertain significance (May 29, 2002)	germline	clinical testing
SCV000488717	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Jun 1, 2016)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 23704879, 19276368, 26580448 Counsyl Autosomal Dominant Disease Classification criteria (2015), Citation Link,
SCV001428451	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 8, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001482788	Baylor Genetics - CSER-TexasKidsCanSeq	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 17, 2019)	paternal	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004817646	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain Significance (Jun 28, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 26580448, 28781887, 31131967, 25741868

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	paternal	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	3	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	4	not provided	not provided	108544	not provided	clinical testing
Western European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2.

Tram E, Savas S, Ozcelik H.

PLoS One. 2013 May 21;8(5):e62468. doi: 10.1371/journal.pone.0062468. Print 2013.

PubMed [citation]

PMID:: 23704879
PMCID:: PMC3660339

CDC25B mediates rapamycin-induced oncogenic responses in cancer cells.

Chen RQ, Yang QK, Lu BW, Yi W, Cantin G, Chen YL, Fearns C, Yates JR 3rd, Lee JD.

Cancer Res. 2009 Mar 15;69(6):2663-8. doi: 10.1158/0008-5472.CAN-08-3222. Epub 2009 Mar 10.

PubMed [citation]

PMID:: 19276368
PMCID:: PMC2697620

See all PubMed Citations (6)

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145139.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided
2	not provided	1	not provided	not provided	clinical testing	not provided
3	Western European	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
3	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Counsyl, SCV000488717.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Institute of Human Genetics, University of Leipzig Medical Center, SCV001428451.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Baylor Genetics - CSER-TexasKidsCanSeq, SCV001482788.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	paternal	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From All of Us Research Program, National Institutes of Health, SCV004817646.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing	PubMed (4)

Description

This missense variant replaces threonine with isoleucine at codon 1550 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). A transcription activation assay using transiently transfected mammalian cell has reported this variant as functional (PMID: 28781887). This variant has been reported in one individual affected with leukemia (PMID: 26580448). A multifactorial analysis has reported likelihood ratios for pathogenicity based on co-occurrence with a pathogenic variant and family history of 1.256 and 1.0595, respectively (PMID: 31131967). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	108544	not provided	not provided		4	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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