NM_007294.4(BRCA1):c.131G>A (p.Cys44Tyr) AND not provided
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Jul 31, 2024
- 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:
- RCV000235119.14
Allele description [Variation Report for NM_007294.4(BRCA1):c.131G>A (p.Cys44Tyr)]
NM_007294.4(BRCA1):c.131G>A (p.Cys44Tyr)
- 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.131G>A (p.Cys44Tyr)
- Other names:
- p.C44Y:TGC>TAC
- HGVS:
- NC_000017.11:g.43115729C>T
- NG_005905.2:g.102255G>A
- NM_001407571.1:c.-58G>A
- NM_001407581.1:c.131G>A
- NM_001407582.1:c.131G>A
- NM_001407583.1:c.131G>A
- NM_001407585.1:c.131G>A
- NM_001407587.1:c.131G>A
- NM_001407590.1:c.131G>A
- NM_001407591.1:c.131G>A
- NM_001407593.1:c.131G>A
- NM_001407594.1:c.131G>A
- NM_001407596.1:c.131G>A
- NM_001407597.1:c.131G>A
- NM_001407598.1:c.131G>A
- NM_001407602.1:c.131G>A
- NM_001407603.1:c.131G>A
- NM_001407605.1:c.131G>A
- NM_001407610.1:c.131G>A
- NM_001407611.1:c.131G>A
- NM_001407612.1:c.131G>A
- NM_001407613.1:c.131G>A
- NM_001407614.1:c.131G>A
- NM_001407615.1:c.131G>A
- NM_001407616.1:c.131G>A
- NM_001407617.1:c.131G>A
- NM_001407618.1:c.131G>A
- NM_001407619.1:c.131G>A
- NM_001407620.1:c.131G>A
- NM_001407621.1:c.131G>A
- NM_001407622.1:c.131G>A
- NM_001407623.1:c.131G>A
- NM_001407624.1:c.131G>A
- NM_001407625.1:c.131G>A
- NM_001407626.1:c.131G>A
- NM_001407627.1:c.131G>A
- NM_001407628.1:c.131G>A
- NM_001407629.1:c.131G>A
- NM_001407630.1:c.131G>A
- NM_001407631.1:c.131G>A
- NM_001407632.1:c.131G>A
- NM_001407633.1:c.131G>A
- NM_001407634.1:c.131G>A
- NM_001407635.1:c.131G>A
- NM_001407636.1:c.131G>A
- NM_001407637.1:c.131G>A
- NM_001407638.1:c.131G>A
- NM_001407639.1:c.131G>A
- NM_001407640.1:c.131G>A
- NM_001407641.1:c.131G>A
- NM_001407642.1:c.131G>A
- NM_001407644.1:c.131G>A
- NM_001407645.1:c.131G>A
- NM_001407646.1:c.131G>A
- NM_001407647.1:c.131G>A
- NM_001407648.1:c.131G>A
- NM_001407649.1:c.131G>A
- NM_001407652.1:c.131G>A
- NM_001407653.1:c.131G>A
- NM_001407654.1:c.131G>A
- NM_001407655.1:c.131G>A
- NM_001407656.1:c.131G>A
- NM_001407657.1:c.131G>A
- NM_001407658.1:c.131G>A
- NM_001407659.1:c.131G>A
- NM_001407660.1:c.131G>A
- NM_001407661.1:c.131G>A
- NM_001407662.1:c.131G>A
- NM_001407663.1:c.131G>A
- NM_001407664.1:c.131G>A
- NM_001407665.1:c.131G>A
- NM_001407666.1:c.131G>A
- NM_001407667.1:c.131G>A
- NM_001407668.1:c.131G>A
- NM_001407669.1:c.131G>A
- NM_001407670.1:c.131G>A
- NM_001407671.1:c.131G>A
- NM_001407672.1:c.131G>A
- NM_001407673.1:c.131G>A
- NM_001407674.1:c.131G>A
- NM_001407675.1:c.131G>A
- NM_001407676.1:c.131G>A
- NM_001407677.1:c.131G>A
- NM_001407678.1:c.131G>A
- NM_001407679.1:c.131G>A
- NM_001407680.1:c.131G>A
- NM_001407681.1:c.131G>A
- NM_001407682.1:c.131G>A
- NM_001407683.1:c.131G>A
- NM_001407684.1:c.131G>A
- NM_001407685.1:c.131G>A
- NM_001407686.1:c.131G>A
- NM_001407687.1:c.131G>A
- NM_001407688.1:c.131G>A
- NM_001407689.1:c.131G>A
- NM_001407690.1:c.131G>A
- NM_001407691.1:c.131G>A
- NM_001407694.1:c.-127G>A
- NM_001407695.1:c.-131G>A
- NM_001407696.1:c.-127G>A
- NM_001407697.1:c.-11G>A
- NM_001407724.1:c.-127G>A
- NM_001407725.1:c.-11G>A
- NM_001407727.1:c.-127G>A
- NM_001407728.1:c.-11G>A
- NM_001407729.1:c.-11G>A
- NM_001407730.1:c.-11G>A
- NM_001407731.1:c.-127G>A
- NM_001407733.1:c.-127G>A
- NM_001407734.1:c.-11G>A
- NM_001407735.1:c.-11G>A
- NM_001407737.1:c.-11G>A
- NM_001407739.1:c.-11G>A
- NM_001407740.1:c.-11G>A
- NM_001407741.1:c.-11G>A
- NM_001407743.1:c.-11G>A
- NM_001407745.1:c.-11G>A
- NM_001407746.1:c.-127G>A
- NM_001407748.1:c.-11G>A
- NM_001407749.1:c.-127G>A
- NM_001407752.1:c.-11G>A
- NM_001407838.1:c.-11G>A
- NM_001407839.1:c.-11G>A
- NM_001407842.1:c.-127G>A
- NM_001407843.1:c.-127G>A
- NM_001407844.1:c.-11G>A
- NM_001407846.1:c.-11G>A
- NM_001407847.1:c.-11G>A
- NM_001407848.1:c.-11G>A
- NM_001407850.1:c.-11G>A
- NM_001407851.1:c.-11G>A
- NM_001407853.1:c.-58G>A
- NM_001407854.1:c.131G>A
- NM_001407858.1:c.131G>A
- NM_001407859.1:c.131G>A
- NM_001407860.1:c.131G>A
- NM_001407861.1:c.131G>A
- NM_001407862.1:c.131G>A
- NM_001407863.1:c.131G>A
- NM_001407874.1:c.131G>A
- NM_001407875.1:c.131G>A
- NM_001407879.1:c.-58G>A
- NM_001407882.1:c.-58G>A
- NM_001407884.1:c.-58G>A
- NM_001407885.1:c.-58G>A
- NM_001407886.1:c.-58G>A
- NM_001407887.1:c.-58G>A
- NM_001407889.1:c.-174G>A
- NM_001407894.1:c.-58G>A
- NM_001407895.1:c.-58G>A
- NM_001407896.1:c.-58G>A
- NM_001407897.1:c.-58G>A
- NM_001407899.1:c.-58G>A
- NM_001407900.1:c.-174G>A
- NM_001407904.1:c.-58G>A
- NM_001407906.1:c.-58G>A
- NM_001407907.1:c.-58G>A
- NM_001407908.1:c.-58G>A
- NM_001407909.1:c.-58G>A
- NM_001407910.1:c.-58G>A
- NM_001407915.1:c.-58G>A
- NM_001407916.1:c.-58G>A
- NM_001407917.1:c.-58G>A
- NM_001407918.1:c.-58G>A
- NM_001407919.1:c.131G>A
- NM_001407920.1:c.-11G>A
- NM_001407921.1:c.-11G>A
- NM_001407922.1:c.-11G>A
- NM_001407923.1:c.-11G>A
- NM_001407926.1:c.-11G>A
- NM_001407927.1:c.-11G>A
- NM_001407930.1:c.-127G>A
- NM_001407933.1:c.-11G>A
- NM_001407934.1:c.-11G>A
- NM_001407935.1:c.-11G>A
- NM_001407937.1:c.131G>A
- NM_001407938.1:c.131G>A
- NM_001407939.1:c.131G>A
- NM_001407940.1:c.131G>A
- NM_001407941.1:c.131G>A
- NM_001407942.1:c.-127G>A
- NM_001407943.1:c.-11G>A
- NM_001407944.1:c.-11G>A
- NM_001407946.1:c.-58G>A
- NM_001407947.1:c.-58G>A
- NM_001407948.1:c.-58G>A
- NM_001407949.1:c.-58G>A
- NM_001407950.1:c.-58G>A
- NM_001407951.1:c.-58G>A
- NM_001407952.1:c.-58G>A
- NM_001407953.1:c.-58G>A
- NM_001407954.1:c.-58G>A
- NM_001407955.1:c.-58G>A
- NM_001407956.1:c.-58G>A
- NM_001407957.1:c.-58G>A
- NM_001407958.1:c.-58G>A
- NM_001407960.1:c.-173G>A
- NM_001407962.1:c.-173G>A
- NM_001407964.1:c.-11G>A
- NM_001407965.1:c.-289G>A
- NM_001407968.1:c.131G>A
- NM_001407969.1:c.131G>A
- NM_001407970.1:c.131G>A
- NM_001407971.1:c.131G>A
- NM_001407972.1:c.131G>A
- NM_001407973.1:c.131G>A
- NM_001407974.1:c.131G>A
- NM_001407975.1:c.131G>A
- NM_001407976.1:c.131G>A
- NM_001407977.1:c.131G>A
- NM_001407978.1:c.131G>A
- NM_001407979.1:c.131G>A
- NM_001407980.1:c.131G>A
- NM_001407981.1:c.131G>A
- NM_001407982.1:c.131G>A
- NM_001407983.1:c.131G>A
- NM_001407984.1:c.131G>A
- NM_001407985.1:c.131G>A
- NM_001407986.1:c.131G>A
- NM_001407990.1:c.131G>A
- NM_001407991.1:c.131G>A
- NM_001407992.1:c.131G>A
- NM_001407993.1:c.131G>A
- NM_001408392.1:c.131G>A
- NM_001408396.1:c.131G>A
- NM_001408397.1:c.131G>A
- NM_001408398.1:c.131G>A
- NM_001408399.1:c.131G>A
- NM_001408400.1:c.131G>A
- NM_001408401.1:c.131G>A
- NM_001408402.1:c.131G>A
- NM_001408403.1:c.131G>A
- NM_001408404.1:c.131G>A
- NM_001408406.1:c.131G>A
- NM_001408407.1:c.131G>A
- NM_001408408.1:c.131G>A
- NM_001408409.1:c.131G>A
- NM_001408410.1:c.-11G>A
- NM_001408411.1:c.131G>A
- NM_001408412.1:c.131G>A
- NM_001408413.1:c.131G>A
- NM_001408414.1:c.131G>A
- NM_001408415.1:c.131G>A
- NM_001408416.1:c.131G>A
- NM_001408418.1:c.131G>A
- NM_001408419.1:c.131G>A
- NM_001408420.1:c.131G>A
- NM_001408421.1:c.131G>A
- NM_001408422.1:c.131G>A
- NM_001408423.1:c.131G>A
- NM_001408424.1:c.131G>A
- NM_001408425.1:c.131G>A
- NM_001408426.1:c.131G>A
- NM_001408427.1:c.131G>A
- NM_001408428.1:c.131G>A
- NM_001408429.1:c.131G>A
- NM_001408430.1:c.131G>A
- NM_001408431.1:c.131G>A
- NM_001408432.1:c.131G>A
- NM_001408433.1:c.131G>A
- NM_001408434.1:c.131G>A
- NM_001408435.1:c.131G>A
- NM_001408436.1:c.131G>A
- NM_001408437.1:c.131G>A
- NM_001408438.1:c.131G>A
- NM_001408439.1:c.131G>A
- NM_001408440.1:c.131G>A
- NM_001408441.1:c.131G>A
- NM_001408442.1:c.131G>A
- NM_001408443.1:c.131G>A
- NM_001408444.1:c.131G>A
- NM_001408445.1:c.131G>A
- NM_001408446.1:c.131G>A
- NM_001408447.1:c.131G>A
- NM_001408448.1:c.131G>A
- NM_001408450.1:c.131G>A
- NM_001408452.1:c.-11G>A
- NM_001408453.1:c.-11G>A
- NM_001408455.1:c.-127G>A
- NM_001408456.1:c.-127G>A
- NM_001408458.1:c.-11G>A
- NM_001408462.1:c.-11G>A
- NM_001408463.1:c.-11G>A
- NM_001408465.1:c.-131G>A
- NM_001408466.1:c.-11G>A
- NM_001408468.1:c.-127G>A
- NM_001408469.1:c.-11G>A
- NM_001408470.1:c.-11G>A
- NM_001408472.1:c.131G>A
- NM_001408473.1:c.131G>A
- NM_001408474.1:c.131G>A
- NM_001408475.1:c.131G>A
- NM_001408476.1:c.131G>A
- NM_001408478.1:c.-58G>A
- NM_001408479.1:c.-58G>A
- NM_001408480.1:c.-58G>A
- NM_001408481.1:c.-58G>A
- NM_001408482.1:c.-58G>A
- NM_001408483.1:c.-58G>A
- NM_001408484.1:c.-58G>A
- NM_001408485.1:c.-58G>A
- NM_001408489.1:c.-58G>A
- NM_001408490.1:c.-58G>A
- NM_001408491.1:c.-58G>A
- NM_001408492.1:c.-174G>A
- NM_001408493.1:c.-58G>A
- NM_001408494.1:c.131G>A
- NM_001408495.1:c.131G>A
- NM_001408497.1:c.-11G>A
- NM_001408499.1:c.-11G>A
- NM_001408500.1:c.-11G>A
- NM_001408501.1:c.-127G>A
- NM_001408502.1:c.-58G>A
- NM_001408503.1:c.-11G>A
- NM_001408504.1:c.-11G>A
- NM_001408505.1:c.-11G>A
- NM_001408506.1:c.-58G>A
- NM_001408507.1:c.-58G>A
- NM_001408508.1:c.-58G>A
- NM_001408509.1:c.-58G>A
- NM_001408510.1:c.-173G>A
- NM_001408512.1:c.-173G>A
- NM_001408513.1:c.-58G>A
- NM_001408514.1:c.-58G>A
- NM_007294.4:c.131G>AMANE SELECT
- NM_007297.4:c.-8+8288G>A
- NM_007298.4:c.131G>A
- NM_007299.4:c.131G>A
- NM_007300.4:c.131G>A
- NM_007304.2:c.131G>A
- NP_001394510.1:p.Cys44Tyr
- NP_001394511.1:p.Cys44Tyr
- NP_001394512.1:p.Cys44Tyr
- NP_001394514.1:p.Cys44Tyr
- NP_001394516.1:p.Cys44Tyr
- NP_001394519.1:p.Cys44Tyr
- NP_001394520.1:p.Cys44Tyr
- NP_001394522.1:p.Cys44Tyr
- NP_001394523.1:p.Cys44Tyr
- NP_001394525.1:p.Cys44Tyr
- NP_001394526.1:p.Cys44Tyr
- NP_001394527.1:p.Cys44Tyr
- NP_001394531.1:p.Cys44Tyr
- NP_001394532.1:p.Cys44Tyr
- NP_001394534.1:p.Cys44Tyr
- NP_001394539.1:p.Cys44Tyr
- NP_001394540.1:p.Cys44Tyr
- NP_001394541.1:p.Cys44Tyr
- NP_001394542.1:p.Cys44Tyr
- NP_001394543.1:p.Cys44Tyr
- NP_001394544.1:p.Cys44Tyr
- NP_001394545.1:p.Cys44Tyr
- NP_001394546.1:p.Cys44Tyr
- NP_001394547.1:p.Cys44Tyr
- NP_001394548.1:p.Cys44Tyr
- NP_001394549.1:p.Cys44Tyr
- NP_001394550.1:p.Cys44Tyr
- NP_001394551.1:p.Cys44Tyr
- NP_001394552.1:p.Cys44Tyr
- NP_001394553.1:p.Cys44Tyr
- NP_001394554.1:p.Cys44Tyr
- NP_001394555.1:p.Cys44Tyr
- NP_001394556.1:p.Cys44Tyr
- NP_001394557.1:p.Cys44Tyr
- NP_001394558.1:p.Cys44Tyr
- NP_001394559.1:p.Cys44Tyr
- NP_001394560.1:p.Cys44Tyr
- NP_001394561.1:p.Cys44Tyr
- NP_001394562.1:p.Cys44Tyr
- NP_001394563.1:p.Cys44Tyr
- NP_001394564.1:p.Cys44Tyr
- NP_001394565.1:p.Cys44Tyr
- NP_001394566.1:p.Cys44Tyr
- NP_001394567.1:p.Cys44Tyr
- NP_001394568.1:p.Cys44Tyr
- NP_001394569.1:p.Cys44Tyr
- NP_001394570.1:p.Cys44Tyr
- NP_001394571.1:p.Cys44Tyr
- NP_001394573.1:p.Cys44Tyr
- NP_001394574.1:p.Cys44Tyr
- NP_001394575.1:p.Cys44Tyr
- NP_001394576.1:p.Cys44Tyr
- NP_001394577.1:p.Cys44Tyr
- NP_001394578.1:p.Cys44Tyr
- NP_001394581.1:p.Cys44Tyr
- NP_001394582.1:p.Cys44Tyr
- NP_001394583.1:p.Cys44Tyr
- NP_001394584.1:p.Cys44Tyr
- NP_001394585.1:p.Cys44Tyr
- NP_001394586.1:p.Cys44Tyr
- NP_001394587.1:p.Cys44Tyr
- NP_001394588.1:p.Cys44Tyr
- NP_001394589.1:p.Cys44Tyr
- NP_001394590.1:p.Cys44Tyr
- NP_001394591.1:p.Cys44Tyr
- NP_001394592.1:p.Cys44Tyr
- NP_001394593.1:p.Cys44Tyr
- NP_001394594.1:p.Cys44Tyr
- NP_001394595.1:p.Cys44Tyr
- NP_001394596.1:p.Cys44Tyr
- NP_001394597.1:p.Cys44Tyr
- NP_001394598.1:p.Cys44Tyr
- NP_001394599.1:p.Cys44Tyr
- NP_001394600.1:p.Cys44Tyr
- NP_001394601.1:p.Cys44Tyr
- NP_001394602.1:p.Cys44Tyr
- NP_001394603.1:p.Cys44Tyr
- NP_001394604.1:p.Cys44Tyr
- NP_001394605.1:p.Cys44Tyr
- NP_001394606.1:p.Cys44Tyr
- NP_001394607.1:p.Cys44Tyr
- NP_001394608.1:p.Cys44Tyr
- NP_001394609.1:p.Cys44Tyr
- NP_001394610.1:p.Cys44Tyr
- NP_001394611.1:p.Cys44Tyr
- NP_001394612.1:p.Cys44Tyr
- NP_001394613.1:p.Cys44Tyr
- NP_001394614.1:p.Cys44Tyr
- NP_001394615.1:p.Cys44Tyr
- NP_001394616.1:p.Cys44Tyr
- NP_001394617.1:p.Cys44Tyr
- NP_001394618.1:p.Cys44Tyr
- NP_001394619.1:p.Cys44Tyr
- NP_001394620.1:p.Cys44Tyr
- NP_001394783.1:p.Cys44Tyr
- NP_001394787.1:p.Cys44Tyr
- NP_001394788.1:p.Cys44Tyr
- NP_001394789.1:p.Cys44Tyr
- NP_001394790.1:p.Cys44Tyr
- NP_001394791.1:p.Cys44Tyr
- NP_001394792.1:p.Cys44Tyr
- NP_001394803.1:p.Cys44Tyr
- NP_001394804.1:p.Cys44Tyr
- NP_001394848.1:p.Cys44Tyr
- NP_001394866.1:p.Cys44Tyr
- NP_001394867.1:p.Cys44Tyr
- NP_001394868.1:p.Cys44Tyr
- NP_001394869.1:p.Cys44Tyr
- NP_001394870.1:p.Cys44Tyr
- NP_001394897.1:p.Cys44Tyr
- NP_001394898.1:p.Cys44Tyr
- NP_001394899.1:p.Cys44Tyr
- NP_001394900.1:p.Cys44Tyr
- NP_001394901.1:p.Cys44Tyr
- NP_001394902.1:p.Cys44Tyr
- NP_001394903.1:p.Cys44Tyr
- NP_001394904.1:p.Cys44Tyr
- NP_001394905.1:p.Cys44Tyr
- NP_001394906.1:p.Cys44Tyr
- NP_001394907.1:p.Cys44Tyr
- NP_001394908.1:p.Cys44Tyr
- NP_001394909.1:p.Cys44Tyr
- NP_001394910.1:p.Cys44Tyr
- NP_001394911.1:p.Cys44Tyr
- NP_001394912.1:p.Cys44Tyr
- NP_001394913.1:p.Cys44Tyr
- NP_001394914.1:p.Cys44Tyr
- NP_001394915.1:p.Cys44Tyr
- NP_001394919.1:p.Cys44Tyr
- NP_001394920.1:p.Cys44Tyr
- NP_001394921.1:p.Cys44Tyr
- NP_001394922.1:p.Cys44Tyr
- NP_001395321.1:p.Cys44Tyr
- NP_001395325.1:p.Cys44Tyr
- NP_001395326.1:p.Cys44Tyr
- NP_001395327.1:p.Cys44Tyr
- NP_001395328.1:p.Cys44Tyr
- NP_001395329.1:p.Cys44Tyr
- NP_001395330.1:p.Cys44Tyr
- NP_001395331.1:p.Cys44Tyr
- NP_001395332.1:p.Cys44Tyr
- NP_001395333.1:p.Cys44Tyr
- NP_001395335.1:p.Cys44Tyr
- NP_001395336.1:p.Cys44Tyr
- NP_001395337.1:p.Cys44Tyr
- NP_001395338.1:p.Cys44Tyr
- NP_001395340.1:p.Cys44Tyr
- NP_001395341.1:p.Cys44Tyr
- NP_001395342.1:p.Cys44Tyr
- NP_001395343.1:p.Cys44Tyr
- NP_001395344.1:p.Cys44Tyr
- NP_001395345.1:p.Cys44Tyr
- NP_001395347.1:p.Cys44Tyr
- NP_001395348.1:p.Cys44Tyr
- NP_001395349.1:p.Cys44Tyr
- NP_001395350.1:p.Cys44Tyr
- NP_001395351.1:p.Cys44Tyr
- NP_001395352.1:p.Cys44Tyr
- NP_001395353.1:p.Cys44Tyr
- NP_001395354.1:p.Cys44Tyr
- NP_001395355.1:p.Cys44Tyr
- NP_001395356.1:p.Cys44Tyr
- NP_001395357.1:p.Cys44Tyr
- NP_001395358.1:p.Cys44Tyr
- NP_001395359.1:p.Cys44Tyr
- NP_001395360.1:p.Cys44Tyr
- NP_001395361.1:p.Cys44Tyr
- NP_001395362.1:p.Cys44Tyr
- NP_001395363.1:p.Cys44Tyr
- NP_001395364.1:p.Cys44Tyr
- NP_001395365.1:p.Cys44Tyr
- NP_001395366.1:p.Cys44Tyr
- NP_001395367.1:p.Cys44Tyr
- NP_001395368.1:p.Cys44Tyr
- NP_001395369.1:p.Cys44Tyr
- NP_001395370.1:p.Cys44Tyr
- NP_001395371.1:p.Cys44Tyr
- NP_001395372.1:p.Cys44Tyr
- NP_001395373.1:p.Cys44Tyr
- NP_001395374.1:p.Cys44Tyr
- NP_001395375.1:p.Cys44Tyr
- NP_001395376.1:p.Cys44Tyr
- NP_001395377.1:p.Cys44Tyr
- NP_001395379.1:p.Cys44Tyr
- NP_001395401.1:p.Cys44Tyr
- NP_001395402.1:p.Cys44Tyr
- NP_001395403.1:p.Cys44Tyr
- NP_001395404.1:p.Cys44Tyr
- NP_001395405.1:p.Cys44Tyr
- NP_001395423.1:p.Cys44Tyr
- NP_001395424.1:p.Cys44Tyr
- NP_009225.1:p.Cys44Tyr
- NP_009225.1:p.Cys44Tyr
- NP_009229.2:p.Cys44Tyr
- NP_009229.2:p.Cys44Tyr
- NP_009230.2:p.Cys44Tyr
- NP_009231.2:p.Cys44Tyr
- NP_009235.2:p.Cys44Tyr
- LRG_292t1:c.131G>A
- LRG_292:g.102255G>A
- LRG_292p1:p.Cys44Tyr
- NC_000017.10:g.41267746C>T
- NM_007294.3:c.131G>A
- NM_007298.3:c.131G>A
- NR_027676.2:n.333G>A
- U14680.1:n.250G>A
This HGVS expression did not pass validation- Nucleotide change:
- 250G>A
- Protein change:
- C44Y
- Links:
- BRCA1-HCI: BRCA1_00114; dbSNP: rs80357446
- NCBI 1000 Genomes Browser:
- rs80357446
- Molecular consequence:
- NM_007297.4:c.-8+8288G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407581.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408472.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408473.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007299.4:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.333G>A - 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.131G>A, a MISSENSE variant, produced a function score of -2.4, 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)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000209888 | GeneDx | criteria provided, single submitter (GeneDx Variant Classification Process June 2021) | Pathogenic (Aug 7, 2023) | germline | clinical testing | |
SCV001133482 | Quest Diagnostics Nichols Institute San Juan Capistrano | criteria provided, single submitter (Quest Diagnostics criteria) | Pathogenic (Jan 7, 2019) | germline | clinical testing | |
SCV005090370 | Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Jul 31, 2024) | 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 |
not provided | germline | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Evolution of the tumor suppressor BRCA1 locus in primates: implications for cancer predisposition.
Pavlicek A, Noskov VN, Kouprina N, Barrett JC, Jurka J, Larionov V.
Hum Mol Genet. 2004 Nov 15;13(22):2737-51. Epub 2004 Sep 22.
- PMID:
- 15385441
Characterization of BRCA1 ring finger variants of uncertain significance.
Sweet K, Senter L, Pilarski R, Wei L, Toland AE.
Breast Cancer Res Treat. 2010 Feb;119(3):737-43. doi: 10.1007/s10549-009-0438-6. Epub 2009 Jun 20.
- PMID:
- 19543972
- PMCID:
- PMC4283813
Details of each submission
From GeneDx, SCV000209888.13
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
Published functional studies demonstrate a damaging effect: reduced cellular proliferation, nuclear localization, and E3 ubiquitin ligase activity, as well as an inability to form a functional heterodimer with BARD1 (Brzovic et al., 2003; Morris et al., 2006; Millot et al., 2011; Starita et al., 2015); in addition, colony size, spot formation, and yeast localization assays of this variant also demonstrated a pathogenic effect (Thouvenot et al., 2016); A multifactorial model strongly predicted this variant to be deleterious (Lindor et al., 2012); Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with breast cancer, including an individual with early-onset, triple negative disease and family history of bilateral breast cancer (Sweet et al., 2010; Sun et al., 2017); Also known as 250G>A; This variant is associated with the following publications: (PMID: 16403807, 12732733, 30209399, 24489791, 16267036, 24312913, 25823446, 27272900, 28724667, 30702160, 31825140, 33087888, 29446198, 21922593, 21990134, 8944023, 20104584, 24389207, 19543972)
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001133482.3
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (10) |
Description
Not found in the total gnomAD dataset, and the data is high quality (0/282214 chr). Predicted to have a damaging effect on the protein. Located in potentially important domain of the protein. Two other pathogenic variants affect the same amino acid. Assessment of experimental evidence suggests this variant results in abnormal protein function.
# | 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 Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV005090370.1
# | 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 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Oct 8, 2024