NM_007294.4(BRCA1):c.122A>T (p.His41Leu) AND Breast-ovarian cancer, familial, susceptibility to, 1
- Germline classification:
- Likely pathogenic (4 submissions)
- Last evaluated:
- Oct 17, 2022
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno 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
This HGVS expression did not pass validation- 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)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.122A>T, a MISSENSE variant, produced a function score of -1.78, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12.
Condition(s)
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV001237887 | Brotman Baty Institute, University of Washington | no classification provided | not provided | not applicable | in vitro | |
SCV004216897 | Baylor Genetics | criteria provided, single submitter (ACMG Guidelines, 2015) | Likely pathogenic (Oct 17, 2022) | unknown | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
not provided | unknown | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
not provided | not applicable | not applicable | not provided | not provided | not provided | not provided | not provided | in vitro |
Citations
PubMed
A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.
Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.
Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.
- PMID:
- 26467025
- PMCID:
- PMC4737317
Strom CM, Rivera S, Elzinga C, Angeloni T, Rosenthal SH, Goos-Root D, Siaw M, Platt J, Braastadt C, Cheng L, Ross D, Sun W.
PLoS One. 2015;10(8):e0136419. doi: 10.1371/journal.pone.0136419.
- PMID:
- 26295337
- PMCID:
- PMC4546651
Details of each submission
From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000296354.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Counsyl, SCV000784758.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (2) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Brotman Baty Institute, University of Washington, SCV001237887.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | in vitro | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | not applicable | not applicable | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Baylor Genetics, SCV004216897.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Flagged submissions
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000296354 | Quest Diagnostics Nichols Institute San Juan Capistrano | flagged submission Reason: Outlier claim with insufficient supporting evidence Notes: None (Quest Diagnostics criteria) | Uncertain significance (Apr 12, 2016) | germline | clinical testing | |
SCV000784758 | Counsyl | flagged submission Reason: Outlier claim with insufficient supporting evidence Notes: None (Counsyl Autosomal Dominant Disease Classification criteria (2015)) | Uncertain significance (Nov 21, 2017) | unknown | clinical testing | PubMed (2) Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf |
Last Updated: Jul 15, 2024