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NM_007294.4(BRCA1):c.131G>A (p.Cys44Tyr) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 8, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000509871.12

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
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)

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000607781Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Aug 8, 2023) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast.

Millot GA, Berger A, Lejour V, Boulé JB, Bobo C, Cullin C, Lopes J, Stoppa-Lyonnet D, Nicolas A.

Hum Mutat. 2011 Dec;32(12):1470-80. doi: 10.1002/humu.21608. Epub 2011 Oct 20.

PubMed [citation]
PMID:
21922593

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Lindor NM, Guidugli L, Wang X, Vallée MP, Monteiro AN, Tavtigian S, Goldgar DE, Couch FJ.

Hum Mutat. 2012 Jan;33(1):8-21. doi: 10.1002/humu.21627. Epub 2011 Nov 3. Review.

PubMed [citation]
PMID:
21990134
PMCID:
PMC3242438
See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV000607781.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

The p.C44Y variant (also known as c.131G>A), located in coding exon 2 of the BRCA1 gene, results from a G to A substitution at nucleotide position 131. The cysteine at codon 44 is replaced by tyrosine, an amino acid with highly dissimilar properties. This alteration, along with another alteration, p.C44S, at the same position, has been classified as definitely pathogenic (p>0.99) by multifactorial analysis, which integrates the following lines of evidence to produce a quantitative likelihood of pathogenicity: in silico prediction models, segregation with disease, tumor characteristics, mutation co-occurrence (Easton D et al. Am J Hum Genet. 2007;81:873-883; Vallee M et al. Hum Mutat. 2012 Jan;33(1):22-8; Lindor NM et al. Hum. Mutat., 2012 Jan;33:8-21). This alteration was shown to disrupt the function of the protein in multiple functional studies using different assays (Millot GA et al. Hum. Mutat., 2011 Dec;32:1470-80; Starita LM et al. Genetics, 2015 Jun;200:413-22; Thouvenot P et al. PLoS Genet., 2016 Jun;12:e1006096). In addition, a recent study found that this nucleotide substitution is deleterious in a high throughput genome editing haploid cell survival assay (Findlay GM et al. Nature. 2018 10;562(7726):217-222). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by BayesDel in silico analysis. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Oct 8, 2024