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

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Jun 11, 2021
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:
RCV000221074.9

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 cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000274542Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jun 11, 2021) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link,

SCV001348623Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Feb 10, 2020) 		germlineclinical testing

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

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

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.

Starita LM, Young DL, Islam M, Kitzman JO, Gullingsrud J, Hause RJ, Fowler DM, Parvin JD, Shendure J, Fields S.

Genetics. 2015 Jun;200(2):413-22. doi: 10.1534/genetics.115.175802. Epub 2015 Mar 30. Erratum in: Genetics. 2017 Dec;207(4):1713. doi: 10.1534/genetics.117.300355.

PubMed [citation]
PMID:
25823446
PMCID:
PMC4492368
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000274542.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The p.H41L pathogenic mutation (also known as c.122A>T), located in coding exon 2 of the BRCA1 gene, results from an A to T substitution at nucleotide position 122. The histidine at codon 41 is replaced by leucine, an amino acid with similar properties. One functional study found that this nucleotide substitution is non-functional in a high-throughput, genome editing, haploid cell survival assay. (Findlay GM et al. Nature. 2018 10;562:217-222). Substitutions at this amino acid residue severely impact E3 ubiquitin ligase activity, however, they have minimal impact on BARD1 binding (Morris JR et al. Hum Mol Genet. 2006 Feb;15(4):599-606; Starita LM et al. Genetics. 2015 Jun;200:413-22). Several other substitutions at this amino acid position are pathogenic, including arginine and tyrosine (Ambry internal data; Morris JR et al. Hum. Mol. Genet. 2006 Feb; 15(4):599-606; Ransburgh DJ et al. Cancer Res. 2010 Feb; 70(3):988-95; Towler WI et al. Hum. Mutat. 2013 Mar; 34(3):439-45). This variant affects a known zinc binding motif which is predicted to disrupt protein folding (Ambry internal data; Brzovic PS et al. Nat. Struct. Biol. 2001 Oct;8:833-7; Brzovic PS et al. Proc. Natl. Acad. Sci. U.S.A., 2003 May;100:5646-51). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

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

From Color Diagnostics, LLC DBA Color Health, SCV001348623.2

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

Description

This missense variant replaces histidine with leucine at codon 41 of the BRCA1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. Functional studies have shown that this variant is non-functional in a homology-direct repair assay (PMID: 30219179) and in a haploid cell proliferation assay (PMID: 30209399) and disrupts binding to E2 ubiquitin conjugating enzyme (PMID: 16403807). This variant has been reported in an individual affected with breast cancer (PMID: 25186627). A different variant occurring at the same position, p.His41Arg, is classified as Pathogenic (Clinvar variation ID: 54166), suggesting that histidine at this position is important for BRCA1 function. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Likely Pathogenic.

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

Last Updated: Jul 15, 2024