NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Jul 1, 2024
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:: RCV000159977.21

Allele description

NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter)

Genes:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter)

Other names:

p.Q1200*:CAG>TAG

HGVS:

NC_000017.11:g.43091933G>A
NG_005905.2:g.126051C>T
NG_087068.1:g.915G>A
NM_001407571.1:c.3385C>T
NM_001407581.1:c.3598C>T
NM_001407582.1:c.3598C>T
NM_001407583.1:c.3598C>T
NM_001407585.1:c.3598C>T
NM_001407587.1:c.3595C>T
NM_001407590.1:c.3595C>T
NM_001407591.1:c.3595C>T
NM_001407593.1:c.3598C>T
NM_001407594.1:c.3598C>T
NM_001407596.1:c.3598C>T
NM_001407597.1:c.3598C>T
NM_001407598.1:c.3598C>T
NM_001407602.1:c.3598C>T
NM_001407603.1:c.3598C>T
NM_001407605.1:c.3598C>T
NM_001407610.1:c.3595C>T
NM_001407611.1:c.3595C>T
NM_001407612.1:c.3595C>T
NM_001407613.1:c.3595C>T
NM_001407614.1:c.3595C>T
NM_001407615.1:c.3595C>T
NM_001407616.1:c.3598C>T
NM_001407617.1:c.3598C>T
NM_001407618.1:c.3598C>T
NM_001407619.1:c.3598C>T
NM_001407620.1:c.3598C>T
NM_001407621.1:c.3598C>T
NM_001407622.1:c.3598C>T
NM_001407623.1:c.3598C>T
NM_001407624.1:c.3598C>T
NM_001407625.1:c.3598C>T
NM_001407626.1:c.3598C>T
NM_001407627.1:c.3595C>T
NM_001407628.1:c.3595C>T
NM_001407629.1:c.3595C>T
NM_001407630.1:c.3595C>T
NM_001407631.1:c.3595C>T
NM_001407632.1:c.3595C>T
NM_001407633.1:c.3595C>T
NM_001407634.1:c.3595C>T
NM_001407635.1:c.3595C>T
NM_001407636.1:c.3595C>T
NM_001407637.1:c.3595C>T
NM_001407638.1:c.3595C>T
NM_001407639.1:c.3598C>T
NM_001407640.1:c.3598C>T
NM_001407641.1:c.3598C>T
NM_001407642.1:c.3598C>T
NM_001407644.1:c.3595C>T
NM_001407645.1:c.3595C>T
NM_001407646.1:c.3589C>T
NM_001407647.1:c.3589C>T
NM_001407648.1:c.3475C>T
NM_001407649.1:c.3472C>T
NM_001407652.1:c.3598C>T
NM_001407653.1:c.3520C>T
NM_001407654.1:c.3520C>T
NM_001407655.1:c.3520C>T
NM_001407656.1:c.3520C>T
NM_001407657.1:c.3520C>T
NM_001407658.1:c.3520C>T
NM_001407659.1:c.3517C>T
NM_001407660.1:c.3517C>T
NM_001407661.1:c.3517C>T
NM_001407662.1:c.3517C>T
NM_001407663.1:c.3520C>T
NM_001407664.1:c.3475C>T
NM_001407665.1:c.3475C>T
NM_001407666.1:c.3475C>T
NM_001407667.1:c.3475C>T
NM_001407668.1:c.3475C>T
NM_001407669.1:c.3475C>T
NM_001407670.1:c.3472C>T
NM_001407671.1:c.3472C>T
NM_001407672.1:c.3472C>T
NM_001407673.1:c.3472C>T
NM_001407674.1:c.3475C>T
NM_001407675.1:c.3475C>T
NM_001407676.1:c.3475C>T
NM_001407677.1:c.3475C>T
NM_001407678.1:c.3475C>T
NM_001407679.1:c.3475C>T
NM_001407680.1:c.3475C>T
NM_001407681.1:c.3475C>T
NM_001407682.1:c.3475C>T
NM_001407683.1:c.3475C>T
NM_001407684.1:c.3598C>T
NM_001407685.1:c.3472C>T
NM_001407686.1:c.3472C>T
NM_001407687.1:c.3472C>T
NM_001407688.1:c.3472C>T
NM_001407689.1:c.3472C>T
NM_001407690.1:c.3472C>T
NM_001407691.1:c.3472C>T
NM_001407692.1:c.3457C>T
NM_001407694.1:c.3457C>T
NM_001407695.1:c.3457C>T
NM_001407696.1:c.3457C>T
NM_001407697.1:c.3457C>T
NM_001407698.1:c.3457C>T
NM_001407724.1:c.3457C>T
NM_001407725.1:c.3457C>T
NM_001407726.1:c.3457C>T
NM_001407727.1:c.3457C>T
NM_001407728.1:c.3457C>T
NM_001407729.1:c.3457C>T
NM_001407730.1:c.3457C>T
NM_001407731.1:c.3457C>T
NM_001407732.1:c.3457C>T
NM_001407733.1:c.3457C>T
NM_001407734.1:c.3457C>T
NM_001407735.1:c.3457C>T
NM_001407736.1:c.3457C>T
NM_001407737.1:c.3457C>T
NM_001407738.1:c.3457C>T
NM_001407739.1:c.3457C>T
NM_001407740.1:c.3454C>T
NM_001407741.1:c.3454C>T
NM_001407742.1:c.3454C>T
NM_001407743.1:c.3454C>T
NM_001407744.1:c.3454C>T
NM_001407745.1:c.3454C>T
NM_001407746.1:c.3454C>T
NM_001407747.1:c.3454C>T
NM_001407748.1:c.3454C>T
NM_001407749.1:c.3454C>T
NM_001407750.1:c.3457C>T
NM_001407751.1:c.3457C>T
NM_001407752.1:c.3457C>T
NM_001407838.1:c.3454C>T
NM_001407839.1:c.3454C>T
NM_001407841.1:c.3454C>T
NM_001407842.1:c.3454C>T
NM_001407843.1:c.3454C>T
NM_001407844.1:c.3454C>T
NM_001407845.1:c.3454C>T
NM_001407846.1:c.3454C>T
NM_001407847.1:c.3454C>T
NM_001407848.1:c.3454C>T
NM_001407849.1:c.3454C>T
NM_001407850.1:c.3457C>T
NM_001407851.1:c.3457C>T
NM_001407852.1:c.3457C>T
NM_001407853.1:c.3385C>T
NM_001407854.1:c.3598C>T
NM_001407858.1:c.3598C>T
NM_001407859.1:c.3598C>T
NM_001407860.1:c.3595C>T
NM_001407861.1:c.3595C>T
NM_001407862.1:c.3397C>T
NM_001407863.1:c.3475C>T
NM_001407874.1:c.3394C>T
NM_001407875.1:c.3394C>T
NM_001407879.1:c.3388C>T
NM_001407881.1:c.3388C>T
NM_001407882.1:c.3388C>T
NM_001407884.1:c.3388C>T
NM_001407885.1:c.3388C>T
NM_001407886.1:c.3388C>T
NM_001407887.1:c.3388C>T
NM_001407889.1:c.3388C>T
NM_001407894.1:c.3385C>T
NM_001407895.1:c.3385C>T
NM_001407896.1:c.3385C>T
NM_001407897.1:c.3385C>T
NM_001407898.1:c.3385C>T
NM_001407899.1:c.3385C>T
NM_001407900.1:c.3388C>T
NM_001407902.1:c.3388C>T
NM_001407904.1:c.3388C>T
NM_001407906.1:c.3388C>T
NM_001407907.1:c.3388C>T
NM_001407908.1:c.3388C>T
NM_001407909.1:c.3388C>T
NM_001407910.1:c.3388C>T
NM_001407915.1:c.3385C>T
NM_001407916.1:c.3385C>T
NM_001407917.1:c.3385C>T
NM_001407918.1:c.3385C>T
NM_001407919.1:c.3475C>T
NM_001407920.1:c.3334C>T
NM_001407921.1:c.3334C>T
NM_001407922.1:c.3334C>T
NM_001407923.1:c.3334C>T
NM_001407924.1:c.3334C>T
NM_001407925.1:c.3334C>T
NM_001407926.1:c.3334C>T
NM_001407927.1:c.3334C>T
NM_001407928.1:c.3334C>T
NM_001407929.1:c.3334C>T
NM_001407930.1:c.3331C>T
NM_001407931.1:c.3331C>T
NM_001407932.1:c.3331C>T
NM_001407933.1:c.3334C>T
NM_001407934.1:c.3331C>T
NM_001407935.1:c.3334C>T
NM_001407936.1:c.3331C>T
NM_001407937.1:c.3475C>T
NM_001407938.1:c.3475C>T
NM_001407939.1:c.3475C>T
NM_001407940.1:c.3472C>T
NM_001407941.1:c.3472C>T
NM_001407942.1:c.3457C>T
NM_001407943.1:c.3454C>T
NM_001407944.1:c.3457C>T
NM_001407945.1:c.3457C>T
NM_001407946.1:c.3265C>T
NM_001407947.1:c.3265C>T
NM_001407948.1:c.3265C>T
NM_001407949.1:c.3265C>T
NM_001407950.1:c.3265C>T
NM_001407951.1:c.3265C>T
NM_001407952.1:c.3265C>T
NM_001407953.1:c.3265C>T
NM_001407954.1:c.3262C>T
NM_001407955.1:c.3262C>T
NM_001407956.1:c.3262C>T
NM_001407957.1:c.3265C>T
NM_001407958.1:c.3262C>T
NM_001407959.1:c.3217C>T
NM_001407960.1:c.3217C>T
NM_001407962.1:c.3214C>T
NM_001407963.1:c.3217C>T
NM_001407964.1:c.3454C>T
NM_001407965.1:c.3094C>T
NM_001407966.1:c.2710C>T
NM_001407967.1:c.2710C>T
NM_001407968.1:c.994C>T
NM_001407969.1:c.994C>T
NM_001407970.1:c.788-901C>T
NM_001407971.1:c.788-901C>T
NM_001407972.1:c.785-901C>T
NM_001407973.1:c.788-901C>T
NM_001407974.1:c.788-901C>T
NM_001407975.1:c.788-901C>T
NM_001407976.1:c.788-901C>T
NM_001407977.1:c.788-901C>T
NM_001407978.1:c.788-901C>T
NM_001407979.1:c.788-901C>T
NM_001407980.1:c.788-901C>T
NM_001407981.1:c.788-901C>T
NM_001407982.1:c.788-901C>T
NM_001407983.1:c.788-901C>T
NM_001407984.1:c.785-901C>T
NM_001407985.1:c.785-901C>T
NM_001407986.1:c.785-901C>T
NM_001407990.1:c.788-901C>T
NM_001407991.1:c.785-901C>T
NM_001407992.1:c.785-901C>T
NM_001407993.1:c.788-901C>T
NM_001408392.1:c.785-901C>T
NM_001408396.1:c.785-901C>T
NM_001408397.1:c.785-901C>T
NM_001408398.1:c.785-901C>T
NM_001408399.1:c.785-901C>T
NM_001408400.1:c.785-901C>T
NM_001408401.1:c.785-901C>T
NM_001408402.1:c.785-901C>T
NM_001408403.1:c.788-901C>T
NM_001408404.1:c.788-901C>T
NM_001408406.1:c.791-910C>T
NM_001408407.1:c.785-901C>T
NM_001408408.1:c.779-901C>T
NM_001408409.1:c.710-901C>T
NM_001408410.1:c.647-901C>T
NM_001408411.1:c.710-901C>T
NM_001408412.1:c.710-901C>T
NM_001408413.1:c.707-901C>T
NM_001408414.1:c.710-901C>T
NM_001408415.1:c.710-901C>T
NM_001408416.1:c.707-901C>T
NM_001408418.1:c.671-901C>T
NM_001408419.1:c.671-901C>T
NM_001408420.1:c.671-901C>T
NM_001408421.1:c.668-901C>T
NM_001408422.1:c.671-901C>T
NM_001408423.1:c.671-901C>T
NM_001408424.1:c.668-901C>T
NM_001408425.1:c.665-901C>T
NM_001408426.1:c.665-901C>T
NM_001408427.1:c.665-901C>T
NM_001408428.1:c.665-901C>T
NM_001408429.1:c.665-901C>T
NM_001408430.1:c.665-901C>T
NM_001408431.1:c.668-901C>T
NM_001408432.1:c.662-901C>T
NM_001408433.1:c.662-901C>T
NM_001408434.1:c.662-901C>T
NM_001408435.1:c.662-901C>T
NM_001408436.1:c.665-901C>T
NM_001408437.1:c.665-901C>T
NM_001408438.1:c.665-901C>T
NM_001408439.1:c.665-901C>T
NM_001408440.1:c.665-901C>T
NM_001408441.1:c.665-901C>T
NM_001408442.1:c.665-901C>T
NM_001408443.1:c.665-901C>T
NM_001408444.1:c.665-901C>T
NM_001408445.1:c.662-901C>T
NM_001408446.1:c.662-901C>T
NM_001408447.1:c.662-901C>T
NM_001408448.1:c.662-901C>T
NM_001408450.1:c.662-901C>T
NM_001408451.1:c.653-901C>T
NM_001408452.1:c.647-901C>T
NM_001408453.1:c.647-901C>T
NM_001408454.1:c.647-901C>T
NM_001408455.1:c.647-901C>T
NM_001408456.1:c.647-901C>T
NM_001408457.1:c.647-901C>T
NM_001408458.1:c.647-901C>T
NM_001408459.1:c.647-901C>T
NM_001408460.1:c.647-901C>T
NM_001408461.1:c.647-901C>T
NM_001408462.1:c.644-901C>T
NM_001408463.1:c.644-901C>T
NM_001408464.1:c.644-901C>T
NM_001408465.1:c.644-901C>T
NM_001408466.1:c.647-901C>T
NM_001408467.1:c.647-901C>T
NM_001408468.1:c.644-901C>T
NM_001408469.1:c.647-901C>T
NM_001408470.1:c.644-901C>T
NM_001408472.1:c.788-901C>T
NM_001408473.1:c.785-901C>T
NM_001408474.1:c.587-901C>T
NM_001408475.1:c.584-901C>T
NM_001408476.1:c.587-901C>T
NM_001408478.1:c.578-901C>T
NM_001408479.1:c.578-901C>T
NM_001408480.1:c.578-901C>T
NM_001408481.1:c.578-901C>T
NM_001408482.1:c.578-901C>T
NM_001408483.1:c.578-901C>T
NM_001408484.1:c.578-901C>T
NM_001408485.1:c.578-901C>T
NM_001408489.1:c.578-901C>T
NM_001408490.1:c.575-901C>T
NM_001408491.1:c.575-901C>T
NM_001408492.1:c.578-901C>T
NM_001408493.1:c.575-901C>T
NM_001408494.1:c.548-901C>T
NM_001408495.1:c.545-901C>T
NM_001408496.1:c.524-901C>T
NM_001408497.1:c.524-901C>T
NM_001408498.1:c.524-901C>T
NM_001408499.1:c.524-901C>T
NM_001408500.1:c.524-901C>T
NM_001408501.1:c.524-901C>T
NM_001408502.1:c.455-901C>T
NM_001408503.1:c.521-901C>T
NM_001408504.1:c.521-901C>T
NM_001408505.1:c.521-901C>T
NM_001408506.1:c.461-901C>T
NM_001408507.1:c.461-901C>T
NM_001408508.1:c.452-901C>T
NM_001408509.1:c.452-901C>T
NM_001408510.1:c.407-901C>T
NM_001408511.1:c.404-901C>T
NM_001408512.1:c.284-901C>T
NM_001408513.1:c.578-901C>T
NM_001408514.1:c.578-901C>T
NM_007294.4:c.3598C>TMANE SELECT
NM_007297.4:c.3457C>T
NM_007298.4:c.788-901C>T
NM_007299.4:c.788-901C>T
NM_007300.4:c.3598C>T
NP_001394500.1:p.Gln1129Ter
NP_001394510.1:p.Gln1200Ter
NP_001394511.1:p.Gln1200Ter
NP_001394512.1:p.Gln1200Ter
NP_001394514.1:p.Gln1200Ter
NP_001394516.1:p.Gln1199Ter
NP_001394519.1:p.Gln1199Ter
NP_001394520.1:p.Gln1199Ter
NP_001394522.1:p.Gln1200Ter
NP_001394523.1:p.Gln1200Ter
NP_001394525.1:p.Gln1200Ter
NP_001394526.1:p.Gln1200Ter
NP_001394527.1:p.Gln1200Ter
NP_001394531.1:p.Gln1200Ter
NP_001394532.1:p.Gln1200Ter
NP_001394534.1:p.Gln1200Ter
NP_001394539.1:p.Gln1199Ter
NP_001394540.1:p.Gln1199Ter
NP_001394541.1:p.Gln1199Ter
NP_001394542.1:p.Gln1199Ter
NP_001394543.1:p.Gln1199Ter
NP_001394544.1:p.Gln1199Ter
NP_001394545.1:p.Gln1200Ter
NP_001394546.1:p.Gln1200Ter
NP_001394547.1:p.Gln1200Ter
NP_001394548.1:p.Gln1200Ter
NP_001394549.1:p.Gln1200Ter
NP_001394550.1:p.Gln1200Ter
NP_001394551.1:p.Gln1200Ter
NP_001394552.1:p.Gln1200Ter
NP_001394553.1:p.Gln1200Ter
NP_001394554.1:p.Gln1200Ter
NP_001394555.1:p.Gln1200Ter
NP_001394556.1:p.Gln1199Ter
NP_001394557.1:p.Gln1199Ter
NP_001394558.1:p.Gln1199Ter
NP_001394559.1:p.Gln1199Ter
NP_001394560.1:p.Gln1199Ter
NP_001394561.1:p.Gln1199Ter
NP_001394562.1:p.Gln1199Ter
NP_001394563.1:p.Gln1199Ter
NP_001394564.1:p.Gln1199Ter
NP_001394565.1:p.Gln1199Ter
NP_001394566.1:p.Gln1199Ter
NP_001394567.1:p.Gln1199Ter
NP_001394568.1:p.Gln1200Ter
NP_001394569.1:p.Gln1200Ter
NP_001394570.1:p.Gln1200Ter
NP_001394571.1:p.Gln1200Ter
NP_001394573.1:p.Gln1199Ter
NP_001394574.1:p.Gln1199Ter
NP_001394575.1:p.Gln1197Ter
NP_001394576.1:p.Gln1197Ter
NP_001394577.1:p.Gln1159Ter
NP_001394578.1:p.Gln1158Ter
NP_001394581.1:p.Gln1200Ter
NP_001394582.1:p.Gln1174Ter
NP_001394583.1:p.Gln1174Ter
NP_001394584.1:p.Gln1174Ter
NP_001394585.1:p.Gln1174Ter
NP_001394586.1:p.Gln1174Ter
NP_001394587.1:p.Gln1174Ter
NP_001394588.1:p.Gln1173Ter
NP_001394589.1:p.Gln1173Ter
NP_001394590.1:p.Gln1173Ter
NP_001394591.1:p.Gln1173Ter
NP_001394592.1:p.Gln1174Ter
NP_001394593.1:p.Gln1159Ter
NP_001394594.1:p.Gln1159Ter
NP_001394595.1:p.Gln1159Ter
NP_001394596.1:p.Gln1159Ter
NP_001394597.1:p.Gln1159Ter
NP_001394598.1:p.Gln1159Ter
NP_001394599.1:p.Gln1158Ter
NP_001394600.1:p.Gln1158Ter
NP_001394601.1:p.Gln1158Ter
NP_001394602.1:p.Gln1158Ter
NP_001394603.1:p.Gln1159Ter
NP_001394604.1:p.Gln1159Ter
NP_001394605.1:p.Gln1159Ter
NP_001394606.1:p.Gln1159Ter
NP_001394607.1:p.Gln1159Ter
NP_001394608.1:p.Gln1159Ter
NP_001394609.1:p.Gln1159Ter
NP_001394610.1:p.Gln1159Ter
NP_001394611.1:p.Gln1159Ter
NP_001394612.1:p.Gln1159Ter
NP_001394613.1:p.Gln1200Ter
NP_001394614.1:p.Gln1158Ter
NP_001394615.1:p.Gln1158Ter
NP_001394616.1:p.Gln1158Ter
NP_001394617.1:p.Gln1158Ter
NP_001394618.1:p.Gln1158Ter
NP_001394619.1:p.Gln1158Ter
NP_001394620.1:p.Gln1158Ter
NP_001394621.1:p.Gln1153Ter
NP_001394623.1:p.Gln1153Ter
NP_001394624.1:p.Gln1153Ter
NP_001394625.1:p.Gln1153Ter
NP_001394626.1:p.Gln1153Ter
NP_001394627.1:p.Gln1153Ter
NP_001394653.1:p.Gln1153Ter
NP_001394654.1:p.Gln1153Ter
NP_001394655.1:p.Gln1153Ter
NP_001394656.1:p.Gln1153Ter
NP_001394657.1:p.Gln1153Ter
NP_001394658.1:p.Gln1153Ter
NP_001394659.1:p.Gln1153Ter
NP_001394660.1:p.Gln1153Ter
NP_001394661.1:p.Gln1153Ter
NP_001394662.1:p.Gln1153Ter
NP_001394663.1:p.Gln1153Ter
NP_001394664.1:p.Gln1153Ter
NP_001394665.1:p.Gln1153Ter
NP_001394666.1:p.Gln1153Ter
NP_001394667.1:p.Gln1153Ter
NP_001394668.1:p.Gln1153Ter
NP_001394669.1:p.Gln1152Ter
NP_001394670.1:p.Gln1152Ter
NP_001394671.1:p.Gln1152Ter
NP_001394672.1:p.Gln1152Ter
NP_001394673.1:p.Gln1152Ter
NP_001394674.1:p.Gln1152Ter
NP_001394675.1:p.Gln1152Ter
NP_001394676.1:p.Gln1152Ter
NP_001394677.1:p.Gln1152Ter
NP_001394678.1:p.Gln1152Ter
NP_001394679.1:p.Gln1153Ter
NP_001394680.1:p.Gln1153Ter
NP_001394681.1:p.Gln1153Ter
NP_001394767.1:p.Gln1152Ter
NP_001394768.1:p.Gln1152Ter
NP_001394770.1:p.Gln1152Ter
NP_001394771.1:p.Gln1152Ter
NP_001394772.1:p.Gln1152Ter
NP_001394773.1:p.Gln1152Ter
NP_001394774.1:p.Gln1152Ter
NP_001394775.1:p.Gln1152Ter
NP_001394776.1:p.Gln1152Ter
NP_001394777.1:p.Gln1152Ter
NP_001394778.1:p.Gln1152Ter
NP_001394779.1:p.Gln1153Ter
NP_001394780.1:p.Gln1153Ter
NP_001394781.1:p.Gln1153Ter
NP_001394782.1:p.Gln1129Ter
NP_001394783.1:p.Gln1200Ter
NP_001394787.1:p.Gln1200Ter
NP_001394788.1:p.Gln1200Ter
NP_001394789.1:p.Gln1199Ter
NP_001394790.1:p.Gln1199Ter
NP_001394791.1:p.Gln1133Ter
NP_001394792.1:p.Gln1159Ter
NP_001394803.1:p.Gln1132Ter
NP_001394804.1:p.Gln1132Ter
NP_001394808.1:p.Gln1130Ter
NP_001394810.1:p.Gln1130Ter
NP_001394811.1:p.Gln1130Ter
NP_001394813.1:p.Gln1130Ter
NP_001394814.1:p.Gln1130Ter
NP_001394815.1:p.Gln1130Ter
NP_001394816.1:p.Gln1130Ter
NP_001394818.1:p.Gln1130Ter
NP_001394823.1:p.Gln1129Ter
NP_001394824.1:p.Gln1129Ter
NP_001394825.1:p.Gln1129Ter
NP_001394826.1:p.Gln1129Ter
NP_001394827.1:p.Gln1129Ter
NP_001394828.1:p.Gln1129Ter
NP_001394829.1:p.Gln1130Ter
NP_001394831.1:p.Gln1130Ter
NP_001394833.1:p.Gln1130Ter
NP_001394835.1:p.Gln1130Ter
NP_001394836.1:p.Gln1130Ter
NP_001394837.1:p.Gln1130Ter
NP_001394838.1:p.Gln1130Ter
NP_001394839.1:p.Gln1130Ter
NP_001394844.1:p.Gln1129Ter
NP_001394845.1:p.Gln1129Ter
NP_001394846.1:p.Gln1129Ter
NP_001394847.1:p.Gln1129Ter
NP_001394848.1:p.Gln1159Ter
NP_001394849.1:p.Gln1112Ter
NP_001394850.1:p.Gln1112Ter
NP_001394851.1:p.Gln1112Ter
NP_001394852.1:p.Gln1112Ter
NP_001394853.1:p.Gln1112Ter
NP_001394854.1:p.Gln1112Ter
NP_001394855.1:p.Gln1112Ter
NP_001394856.1:p.Gln1112Ter
NP_001394857.1:p.Gln1112Ter
NP_001394858.1:p.Gln1112Ter
NP_001394859.1:p.Gln1111Ter
NP_001394860.1:p.Gln1111Ter
NP_001394861.1:p.Gln1111Ter
NP_001394862.1:p.Gln1112Ter
NP_001394863.1:p.Gln1111Ter
NP_001394864.1:p.Gln1112Ter
NP_001394865.1:p.Gln1111Ter
NP_001394866.1:p.Gln1159Ter
NP_001394867.1:p.Gln1159Ter
NP_001394868.1:p.Gln1159Ter
NP_001394869.1:p.Gln1158Ter
NP_001394870.1:p.Gln1158Ter
NP_001394871.1:p.Gln1153Ter
NP_001394872.1:p.Gln1152Ter
NP_001394873.1:p.Gln1153Ter
NP_001394874.1:p.Gln1153Ter
NP_001394875.1:p.Gln1089Ter
NP_001394876.1:p.Gln1089Ter
NP_001394877.1:p.Gln1089Ter
NP_001394878.1:p.Gln1089Ter
NP_001394879.1:p.Gln1089Ter
NP_001394880.1:p.Gln1089Ter
NP_001394881.1:p.Gln1089Ter
NP_001394882.1:p.Gln1089Ter
NP_001394883.1:p.Gln1088Ter
NP_001394884.1:p.Gln1088Ter
NP_001394885.1:p.Gln1088Ter
NP_001394886.1:p.Gln1089Ter
NP_001394887.1:p.Gln1088Ter
NP_001394888.1:p.Gln1073Ter
NP_001394889.1:p.Gln1073Ter
NP_001394891.1:p.Gln1072Ter
NP_001394892.1:p.Gln1073Ter
NP_001394893.1:p.Gln1152Ter
NP_001394894.1:p.Gln1032Ter
NP_001394895.1:p.Gln904Ter
NP_001394896.1:p.Gln904Ter
NP_001394897.1:p.Gln332Ter
NP_001394898.1:p.Gln332Ter
NP_009225.1:p.Gln1200Ter
NP_009225.1:p.Gln1200Ter
NP_009228.2:p.Gln1153Ter
NP_009231.2:p.Gln1200Ter
LRG_292t1:c.3598C>T
LRG_292:g.126051C>T
LRG_292p1:p.Gln1200Ter
NC_000017.10:g.41243950G>A
NM_007294.3:c.3598C>T
NR_027676.1:n.3734C>T
U14680.1:n.3717C>T
p.Gln1200*
p.Q1200*

Nucleotide change:

3717C>T

Protein change:

Q1032*

Links:

dbSNP: rs62625307

NCBI 1000 Genomes Browser:

rs62625307

Molecular consequence:

NM_001407970.1:c.788-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-910C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-901C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.3385C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407581.1:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.3595C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.3595C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.3595C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.3595C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.3595C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.3595C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.3595C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.3595C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.3595C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.3595C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.3595C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.3595C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.3595C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.3595C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.3595C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.3595C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.3595C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.3595C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.3595C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.3595C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.3595C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.3595C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.3595C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.3589C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.3589C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.3475C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.3472C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.3520C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.3520C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.3520C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.3520C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.3520C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.3520C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.3517C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.3517C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.3517C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.3517C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.3520C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.3475C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.3475C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.3475C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.3475C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.3475C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.3475C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.3472C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.3472C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.3472C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.3472C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.3475C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.3475C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.3475C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.3475C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.3475C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.3475C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.3475C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.3475C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.3475C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.3475C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.3472C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.3472C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.3472C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.3472C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.3472C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.3472C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.3472C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407692.1:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407694.1:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407695.1:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407696.1:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407697.1:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407698.1:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407724.1:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407725.1:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407726.1:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407727.1:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407728.1:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407729.1:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407730.1:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407731.1:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407732.1:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407733.1:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407734.1:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407735.1:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407736.1:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407737.1:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407738.1:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407739.1:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407740.1:c.3454C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407741.1:c.3454C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407742.1:c.3454C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407743.1:c.3454C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407744.1:c.3454C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407745.1:c.3454C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407746.1:c.3454C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407747.1:c.3454C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407748.1:c.3454C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407749.1:c.3454C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407750.1:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407751.1:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407752.1:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407838.1:c.3454C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407839.1:c.3454C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407841.1:c.3454C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407842.1:c.3454C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407843.1:c.3454C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407844.1:c.3454C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407845.1:c.3454C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407846.1:c.3454C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407847.1:c.3454C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407848.1:c.3454C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407849.1:c.3454C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407850.1:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407851.1:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407852.1:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407853.1:c.3385C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407854.1:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407858.1:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407859.1:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407860.1:c.3595C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407861.1:c.3595C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.3397C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.3475C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.3394C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.3394C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407879.1:c.3388C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407881.1:c.3388C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407882.1:c.3388C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407884.1:c.3388C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407885.1:c.3388C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407886.1:c.3388C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407887.1:c.3388C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407889.1:c.3388C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407894.1:c.3385C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407895.1:c.3385C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407896.1:c.3385C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407897.1:c.3385C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407898.1:c.3385C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407899.1:c.3385C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407900.1:c.3388C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407902.1:c.3388C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407904.1:c.3388C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407906.1:c.3388C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407907.1:c.3388C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407908.1:c.3388C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407909.1:c.3388C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407910.1:c.3388C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407915.1:c.3385C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407916.1:c.3385C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407917.1:c.3385C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407918.1:c.3385C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.3475C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407920.1:c.3334C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407921.1:c.3334C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407922.1:c.3334C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407923.1:c.3334C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407924.1:c.3334C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407925.1:c.3334C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407926.1:c.3334C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407927.1:c.3334C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407928.1:c.3334C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407929.1:c.3334C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407930.1:c.3331C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407931.1:c.3331C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407932.1:c.3331C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407933.1:c.3334C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407934.1:c.3331C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407935.1:c.3334C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407936.1:c.3331C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407937.1:c.3475C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407938.1:c.3475C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407939.1:c.3475C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407940.1:c.3472C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407941.1:c.3472C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407942.1:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407943.1:c.3454C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407944.1:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407945.1:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407946.1:c.3265C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407947.1:c.3265C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407948.1:c.3265C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407949.1:c.3265C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407950.1:c.3265C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407951.1:c.3265C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407952.1:c.3265C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407953.1:c.3265C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407954.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407955.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407956.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407957.1:c.3265C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407958.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407959.1:c.3217C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407960.1:c.3217C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407962.1:c.3214C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407963.1:c.3217C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407964.1:c.3454C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407965.1:c.3094C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407966.1:c.2710C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407967.1:c.2710C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407968.1:c.994C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407969.1:c.994C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.3457C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.3598C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000210149	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jun 30, 2023)	germline	clinical testing	Citation Link,
SCV000296303	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Oct 4, 2019)	unknown	clinical testing	PubMed (9) [See all records that cite these PMIDs] 27553291, 25371446, 22006311, 9452076, 18159056, 16162645, 15955237, 26467025, 26295337
SCV003809779	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 21, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005092460	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Jul 1, 2024)	germline	clinical testing	Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients.

Rashid MU, Muhammad N, Bajwa S, Faisal S, Tahseen M, Bermejo JL, Amin A, Loya A, Hamann U.

BMC Cancer. 2016 Aug 23;16(1):673. doi: 10.1186/s12885-016-2698-y.

PubMed [citation]

PMID:: 27553291
PMCID:: PMC4995655

Recurrent BRCA1 and BRCA2 mutations in Mexican women with breast cancer.

Torres-Mejía G, Royer R, Llacuachaqui M, Akbari MR, Giuliano AR, Martínez-Matsushita L, Angeles-Llerenas A, Ortega-Olvera C, Ziv E, Lazcano-Ponce E, Phelan CM, Narod SA.

Cancer Epidemiol Biomarkers Prev. 2015 Mar;24(3):498-505. doi: 10.1158/1055-9965.EPI-13-0980. Epub 2014 Nov 4.

PubMed [citation]

PMID:: 25371446
PMCID:: PMC4495576

See all PubMed Citations (10)

Details of each submission

From GeneDx, SCV000210149.15

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

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 3717C>T; This variant is associated with the following publications: (PMID: 27221827, 16162645, 29161300, 18159056, 16267036, 32211327, 29922827, 28888541, 24333842, 25525159, 9452076, 22006311, 25682074, 25716084, 25371446, 25085752, 22711857, 27425403, 27553291, 28127413, 29061967, 28985766, 15955237, 29446198, 29907814, 30706980, 30720243, 31528241, 31454914, 31825140, 31742824, 33758026, 35264596, 35875314, 36385461, 35377489)

#	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		not provided	not provided	not provided	not provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000296303.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (9)

Description

This nonsense variant causes the premature termination of BRCA1 protein synthesis. This variant has been reported in individuals affected with breast or fallopian tube cancer in the published literature (PMID: 27553291 (2016), 25371446 (2014), 22006311 (2011), 18159056 (2007)). Based on the available information, this variant is classified as pathogenic.

#	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 Revvity Omics, Revvity, SCV003809779.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV005092460.1

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

Description

BRCA1: PVS1, PM2, PS4:Moderate

#	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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine