U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.122A>T (p.His41Leu) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Likely pathogenic (3 submissions)
Last evaluated:
Oct 17, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000238698.8

Allele description [Variation Report for NM_007294.4(BRCA1):c.122A>T (p.His41Leu)]

NM_007294.4(BRCA1):c.122A>T (p.His41Leu)

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.122A>T (p.His41Leu)
HGVS:
  • NC_000017.11:g.43115738T>A
  • NG_005905.2:g.102246A>T
  • NM_001407571.1:c.-67A>T
  • NM_001407581.1:c.122A>T
  • NM_001407582.1:c.122A>T
  • NM_001407583.1:c.122A>T
  • NM_001407585.1:c.122A>T
  • NM_001407587.1:c.122A>T
  • NM_001407590.1:c.122A>T
  • NM_001407591.1:c.122A>T
  • NM_001407593.1:c.122A>T
  • NM_001407594.1:c.122A>T
  • NM_001407596.1:c.122A>T
  • NM_001407597.1:c.122A>T
  • NM_001407598.1:c.122A>T
  • NM_001407602.1:c.122A>T
  • NM_001407603.1:c.122A>T
  • NM_001407605.1:c.122A>T
  • NM_001407610.1:c.122A>T
  • NM_001407611.1:c.122A>T
  • NM_001407612.1:c.122A>T
  • NM_001407613.1:c.122A>T
  • NM_001407614.1:c.122A>T
  • NM_001407615.1:c.122A>T
  • NM_001407616.1:c.122A>T
  • NM_001407617.1:c.122A>T
  • NM_001407618.1:c.122A>T
  • NM_001407619.1:c.122A>T
  • NM_001407620.1:c.122A>T
  • NM_001407621.1:c.122A>T
  • NM_001407622.1:c.122A>T
  • NM_001407623.1:c.122A>T
  • NM_001407624.1:c.122A>T
  • NM_001407625.1:c.122A>T
  • NM_001407626.1:c.122A>T
  • NM_001407627.1:c.122A>T
  • NM_001407628.1:c.122A>T
  • NM_001407629.1:c.122A>T
  • NM_001407630.1:c.122A>T
  • NM_001407631.1:c.122A>T
  • NM_001407632.1:c.122A>T
  • NM_001407633.1:c.122A>T
  • NM_001407634.1:c.122A>T
  • NM_001407635.1:c.122A>T
  • NM_001407636.1:c.122A>T
  • NM_001407637.1:c.122A>T
  • NM_001407638.1:c.122A>T
  • NM_001407639.1:c.122A>T
  • NM_001407640.1:c.122A>T
  • NM_001407641.1:c.122A>T
  • NM_001407642.1:c.122A>T
  • NM_001407644.1:c.122A>T
  • NM_001407645.1:c.122A>T
  • NM_001407646.1:c.122A>T
  • NM_001407647.1:c.122A>T
  • NM_001407648.1:c.122A>T
  • NM_001407649.1:c.122A>T
  • NM_001407652.1:c.122A>T
  • NM_001407653.1:c.122A>T
  • NM_001407654.1:c.122A>T
  • NM_001407655.1:c.122A>T
  • NM_001407656.1:c.122A>T
  • NM_001407657.1:c.122A>T
  • NM_001407658.1:c.122A>T
  • NM_001407659.1:c.122A>T
  • NM_001407660.1:c.122A>T
  • NM_001407661.1:c.122A>T
  • NM_001407662.1:c.122A>T
  • NM_001407663.1:c.122A>T
  • NM_001407664.1:c.122A>T
  • NM_001407665.1:c.122A>T
  • NM_001407666.1:c.122A>T
  • NM_001407667.1:c.122A>T
  • NM_001407668.1:c.122A>T
  • NM_001407669.1:c.122A>T
  • NM_001407670.1:c.122A>T
  • NM_001407671.1:c.122A>T
  • NM_001407672.1:c.122A>T
  • NM_001407673.1:c.122A>T
  • NM_001407674.1:c.122A>T
  • NM_001407675.1:c.122A>T
  • NM_001407676.1:c.122A>T
  • NM_001407677.1:c.122A>T
  • NM_001407678.1:c.122A>T
  • NM_001407679.1:c.122A>T
  • NM_001407680.1:c.122A>T
  • NM_001407681.1:c.122A>T
  • NM_001407682.1:c.122A>T
  • NM_001407683.1:c.122A>T
  • NM_001407684.1:c.122A>T
  • NM_001407685.1:c.122A>T
  • NM_001407686.1:c.122A>T
  • NM_001407687.1:c.122A>T
  • NM_001407688.1:c.122A>T
  • NM_001407689.1:c.122A>T
  • NM_001407690.1:c.122A>T
  • NM_001407691.1:c.122A>T
  • NM_001407694.1:c.-136A>T
  • NM_001407695.1:c.-140A>T
  • NM_001407696.1:c.-136A>T
  • NM_001407697.1:c.-20A>T
  • NM_001407724.1:c.-136A>T
  • NM_001407725.1:c.-20A>T
  • NM_001407727.1:c.-136A>T
  • NM_001407728.1:c.-20A>T
  • NM_001407729.1:c.-20A>T
  • NM_001407730.1:c.-20A>T
  • NM_001407731.1:c.-136A>T
  • NM_001407733.1:c.-136A>T
  • NM_001407734.1:c.-20A>T
  • NM_001407735.1:c.-20A>T
  • NM_001407737.1:c.-20A>T
  • NM_001407739.1:c.-20A>T
  • NM_001407740.1:c.-20A>T
  • NM_001407741.1:c.-20A>T
  • NM_001407743.1:c.-20A>T
  • NM_001407745.1:c.-20A>T
  • NM_001407746.1:c.-136A>T
  • NM_001407748.1:c.-20A>T
  • NM_001407749.1:c.-136A>T
  • NM_001407752.1:c.-20A>T
  • NM_001407838.1:c.-20A>T
  • NM_001407839.1:c.-20A>T
  • NM_001407841.1:c.-16A>T
  • NM_001407842.1:c.-136A>T
  • NM_001407843.1:c.-136A>T
  • NM_001407844.1:c.-20A>T
  • NM_001407846.1:c.-20A>T
  • NM_001407847.1:c.-20A>T
  • NM_001407848.1:c.-20A>T
  • NM_001407850.1:c.-20A>T
  • NM_001407851.1:c.-20A>T
  • NM_001407853.1:c.-67A>T
  • NM_001407854.1:c.122A>T
  • NM_001407858.1:c.122A>T
  • NM_001407859.1:c.122A>T
  • NM_001407860.1:c.122A>T
  • NM_001407861.1:c.122A>T
  • NM_001407862.1:c.122A>T
  • NM_001407863.1:c.122A>T
  • NM_001407874.1:c.122A>T
  • NM_001407875.1:c.122A>T
  • NM_001407879.1:c.-67A>T
  • NM_001407882.1:c.-67A>T
  • NM_001407884.1:c.-67A>T
  • NM_001407885.1:c.-67A>T
  • NM_001407886.1:c.-67A>T
  • NM_001407887.1:c.-67A>T
  • NM_001407889.1:c.-183A>T
  • NM_001407894.1:c.-67A>T
  • NM_001407895.1:c.-67A>T
  • NM_001407896.1:c.-67A>T
  • NM_001407897.1:c.-67A>T
  • NM_001407899.1:c.-67A>T
  • NM_001407900.1:c.-183A>T
  • NM_001407904.1:c.-67A>T
  • NM_001407906.1:c.-67A>T
  • NM_001407907.1:c.-67A>T
  • NM_001407908.1:c.-67A>T
  • NM_001407909.1:c.-67A>T
  • NM_001407910.1:c.-67A>T
  • NM_001407915.1:c.-67A>T
  • NM_001407916.1:c.-67A>T
  • NM_001407917.1:c.-67A>T
  • NM_001407918.1:c.-67A>T
  • NM_001407919.1:c.122A>T
  • NM_001407920.1:c.-20A>T
  • NM_001407921.1:c.-20A>T
  • NM_001407922.1:c.-20A>T
  • NM_001407923.1:c.-20A>T
  • NM_001407926.1:c.-20A>T
  • NM_001407927.1:c.-20A>T
  • NM_001407930.1:c.-136A>T
  • NM_001407933.1:c.-20A>T
  • NM_001407934.1:c.-20A>T
  • NM_001407935.1:c.-20A>T
  • NM_001407937.1:c.122A>T
  • NM_001407938.1:c.122A>T
  • NM_001407939.1:c.122A>T
  • NM_001407940.1:c.122A>T
  • NM_001407941.1:c.122A>T
  • NM_001407942.1:c.-136A>T
  • NM_001407943.1:c.-20A>T
  • NM_001407944.1:c.-20A>T
  • NM_001407946.1:c.-67A>T
  • NM_001407947.1:c.-67A>T
  • NM_001407948.1:c.-67A>T
  • NM_001407949.1:c.-67A>T
  • NM_001407950.1:c.-67A>T
  • NM_001407951.1:c.-67A>T
  • NM_001407952.1:c.-67A>T
  • NM_001407953.1:c.-67A>T
  • NM_001407954.1:c.-67A>T
  • NM_001407955.1:c.-67A>T
  • NM_001407956.1:c.-67A>T
  • NM_001407957.1:c.-67A>T
  • NM_001407958.1:c.-67A>T
  • NM_001407960.1:c.-182A>T
  • NM_001407962.1:c.-182A>T
  • NM_001407964.1:c.-20A>T
  • NM_001407965.1:c.-298A>T
  • NM_001407968.1:c.122A>T
  • NM_001407969.1:c.122A>T
  • NM_001407970.1:c.122A>T
  • NM_001407971.1:c.122A>T
  • NM_001407972.1:c.122A>T
  • NM_001407973.1:c.122A>T
  • NM_001407974.1:c.122A>T
  • NM_001407975.1:c.122A>T
  • NM_001407976.1:c.122A>T
  • NM_001407977.1:c.122A>T
  • NM_001407978.1:c.122A>T
  • NM_001407979.1:c.122A>T
  • NM_001407980.1:c.122A>T
  • NM_001407981.1:c.122A>T
  • NM_001407982.1:c.122A>T
  • NM_001407983.1:c.122A>T
  • NM_001407984.1:c.122A>T
  • NM_001407985.1:c.122A>T
  • NM_001407986.1:c.122A>T
  • NM_001407990.1:c.122A>T
  • NM_001407991.1:c.122A>T
  • NM_001407992.1:c.122A>T
  • NM_001407993.1:c.122A>T
  • NM_001408392.1:c.122A>T
  • NM_001408396.1:c.122A>T
  • NM_001408397.1:c.122A>T
  • NM_001408398.1:c.122A>T
  • NM_001408399.1:c.122A>T
  • NM_001408400.1:c.122A>T
  • NM_001408401.1:c.122A>T
  • NM_001408402.1:c.122A>T
  • NM_001408403.1:c.122A>T
  • NM_001408404.1:c.122A>T
  • NM_001408406.1:c.122A>T
  • NM_001408407.1:c.122A>T
  • NM_001408408.1:c.122A>T
  • NM_001408409.1:c.122A>T
  • NM_001408410.1:c.-20A>T
  • NM_001408411.1:c.122A>T
  • NM_001408412.1:c.122A>T
  • NM_001408413.1:c.122A>T
  • NM_001408414.1:c.122A>T
  • NM_001408415.1:c.122A>T
  • NM_001408416.1:c.122A>T
  • NM_001408418.1:c.122A>T
  • NM_001408419.1:c.122A>T
  • NM_001408420.1:c.122A>T
  • NM_001408421.1:c.122A>T
  • NM_001408422.1:c.122A>T
  • NM_001408423.1:c.122A>T
  • NM_001408424.1:c.122A>T
  • NM_001408425.1:c.122A>T
  • NM_001408426.1:c.122A>T
  • NM_001408427.1:c.122A>T
  • NM_001408428.1:c.122A>T
  • NM_001408429.1:c.122A>T
  • NM_001408430.1:c.122A>T
  • NM_001408431.1:c.122A>T
  • NM_001408432.1:c.122A>T
  • NM_001408433.1:c.122A>T
  • NM_001408434.1:c.122A>T
  • NM_001408435.1:c.122A>T
  • NM_001408436.1:c.122A>T
  • NM_001408437.1:c.122A>T
  • NM_001408438.1:c.122A>T
  • NM_001408439.1:c.122A>T
  • NM_001408440.1:c.122A>T
  • NM_001408441.1:c.122A>T
  • NM_001408442.1:c.122A>T
  • NM_001408443.1:c.122A>T
  • NM_001408444.1:c.122A>T
  • NM_001408445.1:c.122A>T
  • NM_001408446.1:c.122A>T
  • NM_001408447.1:c.122A>T
  • NM_001408448.1:c.122A>T
  • NM_001408450.1:c.122A>T
  • NM_001408452.1:c.-20A>T
  • NM_001408453.1:c.-20A>T
  • NM_001408455.1:c.-136A>T
  • NM_001408456.1:c.-136A>T
  • NM_001408458.1:c.-20A>T
  • NM_001408462.1:c.-20A>T
  • NM_001408463.1:c.-20A>T
  • NM_001408465.1:c.-140A>T
  • NM_001408466.1:c.-20A>T
  • NM_001408468.1:c.-136A>T
  • NM_001408469.1:c.-20A>T
  • NM_001408470.1:c.-20A>T
  • NM_001408472.1:c.122A>T
  • NM_001408473.1:c.122A>T
  • NM_001408474.1:c.122A>T
  • NM_001408475.1:c.122A>T
  • NM_001408476.1:c.122A>T
  • NM_001408478.1:c.-67A>T
  • NM_001408479.1:c.-67A>T
  • NM_001408480.1:c.-67A>T
  • NM_001408481.1:c.-67A>T
  • NM_001408482.1:c.-67A>T
  • NM_001408483.1:c.-67A>T
  • NM_001408484.1:c.-67A>T
  • NM_001408485.1:c.-67A>T
  • NM_001408489.1:c.-67A>T
  • NM_001408490.1:c.-67A>T
  • NM_001408491.1:c.-67A>T
  • NM_001408492.1:c.-183A>T
  • NM_001408493.1:c.-67A>T
  • NM_001408494.1:c.122A>T
  • NM_001408495.1:c.122A>T
  • NM_001408497.1:c.-20A>T
  • NM_001408499.1:c.-20A>T
  • NM_001408500.1:c.-20A>T
  • NM_001408501.1:c.-136A>T
  • NM_001408502.1:c.-67A>T
  • NM_001408503.1:c.-20A>T
  • NM_001408504.1:c.-20A>T
  • NM_001408505.1:c.-20A>T
  • NM_001408506.1:c.-67A>T
  • NM_001408507.1:c.-67A>T
  • NM_001408508.1:c.-67A>T
  • NM_001408509.1:c.-67A>T
  • NM_001408510.1:c.-182A>T
  • NM_001408512.1:c.-182A>T
  • NM_001408513.1:c.-67A>T
  • NM_001408514.1:c.-67A>T
  • NM_007294.4:c.122A>TMANE SELECT
  • NM_007297.4:c.-8+8279A>T
  • NM_007298.4:c.122A>T
  • NM_007299.4:c.122A>T
  • NM_007300.4:c.122A>T
  • NM_007304.2:c.122A>T
  • NP_001394510.1:p.His41Leu
  • NP_001394511.1:p.His41Leu
  • NP_001394512.1:p.His41Leu
  • NP_001394514.1:p.His41Leu
  • NP_001394516.1:p.His41Leu
  • NP_001394519.1:p.His41Leu
  • NP_001394520.1:p.His41Leu
  • NP_001394522.1:p.His41Leu
  • NP_001394523.1:p.His41Leu
  • NP_001394525.1:p.His41Leu
  • NP_001394526.1:p.His41Leu
  • NP_001394527.1:p.His41Leu
  • NP_001394531.1:p.His41Leu
  • NP_001394532.1:p.His41Leu
  • NP_001394534.1:p.His41Leu
  • NP_001394539.1:p.His41Leu
  • NP_001394540.1:p.His41Leu
  • NP_001394541.1:p.His41Leu
  • NP_001394542.1:p.His41Leu
  • NP_001394543.1:p.His41Leu
  • NP_001394544.1:p.His41Leu
  • NP_001394545.1:p.His41Leu
  • NP_001394546.1:p.His41Leu
  • NP_001394547.1:p.His41Leu
  • NP_001394548.1:p.His41Leu
  • NP_001394549.1:p.His41Leu
  • NP_001394550.1:p.His41Leu
  • NP_001394551.1:p.His41Leu
  • NP_001394552.1:p.His41Leu
  • NP_001394553.1:p.His41Leu
  • NP_001394554.1:p.His41Leu
  • NP_001394555.1:p.His41Leu
  • NP_001394556.1:p.His41Leu
  • NP_001394557.1:p.His41Leu
  • NP_001394558.1:p.His41Leu
  • NP_001394559.1:p.His41Leu
  • NP_001394560.1:p.His41Leu
  • NP_001394561.1:p.His41Leu
  • NP_001394562.1:p.His41Leu
  • NP_001394563.1:p.His41Leu
  • NP_001394564.1:p.His41Leu
  • NP_001394565.1:p.His41Leu
  • NP_001394566.1:p.His41Leu
  • NP_001394567.1:p.His41Leu
  • NP_001394568.1:p.His41Leu
  • NP_001394569.1:p.His41Leu
  • NP_001394570.1:p.His41Leu
  • NP_001394571.1:p.His41Leu
  • NP_001394573.1:p.His41Leu
  • NP_001394574.1:p.His41Leu
  • NP_001394575.1:p.His41Leu
  • NP_001394576.1:p.His41Leu
  • NP_001394577.1:p.His41Leu
  • NP_001394578.1:p.His41Leu
  • NP_001394581.1:p.His41Leu
  • NP_001394582.1:p.His41Leu
  • NP_001394583.1:p.His41Leu
  • NP_001394584.1:p.His41Leu
  • NP_001394585.1:p.His41Leu
  • NP_001394586.1:p.His41Leu
  • NP_001394587.1:p.His41Leu
  • NP_001394588.1:p.His41Leu
  • NP_001394589.1:p.His41Leu
  • NP_001394590.1:p.His41Leu
  • NP_001394591.1:p.His41Leu
  • NP_001394592.1:p.His41Leu
  • NP_001394593.1:p.His41Leu
  • NP_001394594.1:p.His41Leu
  • NP_001394595.1:p.His41Leu
  • NP_001394596.1:p.His41Leu
  • NP_001394597.1:p.His41Leu
  • NP_001394598.1:p.His41Leu
  • NP_001394599.1:p.His41Leu
  • NP_001394600.1:p.His41Leu
  • NP_001394601.1:p.His41Leu
  • NP_001394602.1:p.His41Leu
  • NP_001394603.1:p.His41Leu
  • NP_001394604.1:p.His41Leu
  • NP_001394605.1:p.His41Leu
  • NP_001394606.1:p.His41Leu
  • NP_001394607.1:p.His41Leu
  • NP_001394608.1:p.His41Leu
  • NP_001394609.1:p.His41Leu
  • NP_001394610.1:p.His41Leu
  • NP_001394611.1:p.His41Leu
  • NP_001394612.1:p.His41Leu
  • NP_001394613.1:p.His41Leu
  • NP_001394614.1:p.His41Leu
  • NP_001394615.1:p.His41Leu
  • NP_001394616.1:p.His41Leu
  • NP_001394617.1:p.His41Leu
  • NP_001394618.1:p.His41Leu
  • NP_001394619.1:p.His41Leu
  • NP_001394620.1:p.His41Leu
  • NP_001394783.1:p.His41Leu
  • NP_001394787.1:p.His41Leu
  • NP_001394788.1:p.His41Leu
  • NP_001394789.1:p.His41Leu
  • NP_001394790.1:p.His41Leu
  • NP_001394791.1:p.His41Leu
  • NP_001394792.1:p.His41Leu
  • NP_001394803.1:p.His41Leu
  • NP_001394804.1:p.His41Leu
  • NP_001394848.1:p.His41Leu
  • NP_001394866.1:p.His41Leu
  • NP_001394867.1:p.His41Leu
  • NP_001394868.1:p.His41Leu
  • NP_001394869.1:p.His41Leu
  • NP_001394870.1:p.His41Leu
  • NP_001394897.1:p.His41Leu
  • NP_001394898.1:p.His41Leu
  • NP_001394899.1:p.His41Leu
  • NP_001394900.1:p.His41Leu
  • NP_001394901.1:p.His41Leu
  • NP_001394902.1:p.His41Leu
  • NP_001394903.1:p.His41Leu
  • NP_001394904.1:p.His41Leu
  • NP_001394905.1:p.His41Leu
  • NP_001394906.1:p.His41Leu
  • NP_001394907.1:p.His41Leu
  • NP_001394908.1:p.His41Leu
  • NP_001394909.1:p.His41Leu
  • NP_001394910.1:p.His41Leu
  • NP_001394911.1:p.His41Leu
  • NP_001394912.1:p.His41Leu
  • NP_001394913.1:p.His41Leu
  • NP_001394914.1:p.His41Leu
  • NP_001394915.1:p.His41Leu
  • NP_001394919.1:p.His41Leu
  • NP_001394920.1:p.His41Leu
  • NP_001394921.1:p.His41Leu
  • NP_001394922.1:p.His41Leu
  • NP_001395321.1:p.His41Leu
  • NP_001395325.1:p.His41Leu
  • NP_001395326.1:p.His41Leu
  • NP_001395327.1:p.His41Leu
  • NP_001395328.1:p.His41Leu
  • NP_001395329.1:p.His41Leu
  • NP_001395330.1:p.His41Leu
  • NP_001395331.1:p.His41Leu
  • NP_001395332.1:p.His41Leu
  • NP_001395333.1:p.His41Leu
  • NP_001395335.1:p.His41Leu
  • NP_001395336.1:p.His41Leu
  • NP_001395337.1:p.His41Leu
  • NP_001395338.1:p.His41Leu
  • NP_001395340.1:p.His41Leu
  • NP_001395341.1:p.His41Leu
  • NP_001395342.1:p.His41Leu
  • NP_001395343.1:p.His41Leu
  • NP_001395344.1:p.His41Leu
  • NP_001395345.1:p.His41Leu
  • NP_001395347.1:p.His41Leu
  • NP_001395348.1:p.His41Leu
  • NP_001395349.1:p.His41Leu
  • NP_001395350.1:p.His41Leu
  • NP_001395351.1:p.His41Leu
  • NP_001395352.1:p.His41Leu
  • NP_001395353.1:p.His41Leu
  • NP_001395354.1:p.His41Leu
  • NP_001395355.1:p.His41Leu
  • NP_001395356.1:p.His41Leu
  • NP_001395357.1:p.His41Leu
  • NP_001395358.1:p.His41Leu
  • NP_001395359.1:p.His41Leu
  • NP_001395360.1:p.His41Leu
  • NP_001395361.1:p.His41Leu
  • NP_001395362.1:p.His41Leu
  • NP_001395363.1:p.His41Leu
  • NP_001395364.1:p.His41Leu
  • NP_001395365.1:p.His41Leu
  • NP_001395366.1:p.His41Leu
  • NP_001395367.1:p.His41Leu
  • NP_001395368.1:p.His41Leu
  • NP_001395369.1:p.His41Leu
  • NP_001395370.1:p.His41Leu
  • NP_001395371.1:p.His41Leu
  • NP_001395372.1:p.His41Leu
  • NP_001395373.1:p.His41Leu
  • NP_001395374.1:p.His41Leu
  • NP_001395375.1:p.His41Leu
  • NP_001395376.1:p.His41Leu
  • NP_001395377.1:p.His41Leu
  • NP_001395379.1:p.His41Leu
  • NP_001395401.1:p.His41Leu
  • NP_001395402.1:p.His41Leu
  • NP_001395403.1:p.His41Leu
  • NP_001395404.1:p.His41Leu
  • NP_001395405.1:p.His41Leu
  • NP_001395423.1:p.His41Leu
  • NP_001395424.1:p.His41Leu
  • NP_009225.1:p.His41Leu
  • NP_009225.1:p.His41Leu
  • NP_009229.2:p.His41Leu
  • NP_009229.2:p.His41Leu
  • NP_009230.2:p.His41Leu
  • NP_009231.2:p.His41Leu
  • NP_009235.2:p.His41Leu
  • LRG_292t1:c.122A>T
  • LRG_292:g.102246A>T
  • LRG_292p1:p.His41Leu
  • NC_000017.10:g.41267755T>A
  • NM_007294.3:c.122A>T
  • NM_007298.3:c.122A>T
  • NR_027676.2:n.324A>T
Protein change:
H41L
Links:
dbSNP: rs80357276
NCBI 1000 Genomes Browser:
rs80357276
Molecular consequence:
  • NM_007297.4:c.-8+8279A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.122A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.324A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001237887Brotman Baty Institute, University of Washington
no classification provided
not providednot applicablein vitro

PubMed (1)
[See all records that cite this PMID]

Citation Link,

SCV004216897Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Oct 17, 2022) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot applicablenot applicablenot providednot providednot providednot providednot providedin vitro
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, Timms K, Garber JE, Herold C, Ellisen L, Krejdovsky J, DeLeonardis K, Sedgwick K, Soltis K, Roa B, Wenstrup RJ, Hartman AR.

Cancer. 2015 Jan 1;121(1):25-33. doi: 10.1002/cncr.29010. Epub 2014 Sep 3.

PubMed [citation]
PMID:
25186627

Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility.

Morris JR, Pangon L, Boutell C, Katagiri T, Keep NH, Solomon E.

Hum Mol Genet. 2006 Feb 15;15(4):599-606. Epub 2006 Jan 10.

PubMed [citation]
PMID:
16403807
See all PubMed Citations (4)

Details of each submission

From Counsyl, SCV000784758.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Brotman Baty Institute, University of Washington, SCV001237887.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedin vitro PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not applicablenot applicablenot providednot providednot providednot providednot providednot providednot provided

From Baylor Genetics, SCV004216897.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000784758Counsyl
flagged submission
Reason: Outlier claim with insufficient supporting evidence
Notes: None

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Uncertain significance
(Nov 21, 2017) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

Citation Link

Last Updated: Oct 8, 2024