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NM_007294.4(BRCA1):c.122A>T (p.His41Leu) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Aug 25, 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:
RCV001194451.10

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:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001364030Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Pathogenic
(Jan 30, 2023) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link,

SCV001392328Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Aug 25, 2023) 		germlineclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

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

Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.

Herzog JS, Chavarri-Guerra Y, Castillo D, Abugattas J, Villarreal-Garza C, Sand S, Clague-Dehart J, Alvarez-Gómez RM, Wegman-Ostrosky T, Mohar A, Mora P, Del Toro-Valero A, Daneri-Navarro A, Rodriguez Y, Cruz-Correa M, Ashton-Prolla P, Alemar B, Mejia R, Gallardo L, Shaw R, Yang K, Cervantes A, et al.

NPJ Breast Cancer. 2021 Aug 19;7(1):107. doi: 10.1038/s41523-021-00317-6.

PubMed [citation]
PMID:
34413315
PMCID:
PMC8377150
See all PubMed Citations (10)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001364030.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

Variant summary: BRCA1 c.122A>T (p.His41Leu) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 250784 control chromosomes. c.122A>T has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (Tung_2014, Herzog_2021). These data indicate that the variant is likely to be associated with disease. At least one functional study reports experimental evidence evaluating an impact on protein function and showed a damaging effect of this variant on homology directed repair (HDR) activity (e.g. Findlay_2018). HDR assays qualify as a recognized gold standard on the basis of updated guidance provided by the ClinGen Sequence Variant Interpretation (SVI) working group. Other variants impacting the same codon have been classified as pathogenic by our lab (p.His41Arg). Seven clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Multiple laboratories reported the variant with conflicting assessments (5 likely pathogenic/pathogenic, 2 VUS). Based on the evidence outlined above, the variant was classified as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Invitae, SCV001392328.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)

Description

This sequence change replaces histidine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 41 of the BRCA1 protein (p.His41Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with breast cancer (PMID: 25186627). ClinVar contains an entry for this variant (Variation ID: 230862). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is expected to disrupt BRCA1 function. Experimental studies have shown that this missense change affects BRCA1 function (PMID: 25823446, 30209399, 30219179). This variant disrupts the p.His41 amino acid residue in BRCA1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 20103620, 21725363, 24489791, 25823446, 30209399). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024