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 starscriteria provided, multiple submitters, no conflicts
- 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:
- 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
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)
- 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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CCDC149 coiled-coil domain containing 149 [Homo sapiens]
CCDC149 coiled-coil domain containing 149 [Homo sapiens]Gene ID:91050Gene
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Gene Links for GEO Profiles (Select 88635596) (1)
Gene
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Gene Links for GEO Profiles (Select 88629184) (1)
Gene
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LGI2 leucine rich repeat LGI family member 2 [Homo sapiens]
LGI2 leucine rich repeat LGI family member 2 [Homo sapiens]Gene ID:55203Gene
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Homologene neighbors for GEO Profiles (Select 88611034) (0)
GEO Profiles
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV001364030 | Women's Health and Genetics/Laboratory Corporation of America, LabCorp | criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) | Pathogenic (Jan 30, 2023) | germline | clinical testing | |
SCV001392328 | Invitae | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Pathogenic (Aug 25, 2023) | germline | 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 |
Citations
PubMed
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.
- 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.
- PMID:
- 34413315
- PMCID:
- PMC8377150
Details of each submission
From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001364030.3
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical 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.
# | 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 Invitae, SCV001392328.5
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical 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.
# | 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 |
Last Updated: Jul 15, 2024