NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Jan 9, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000496386.15

Allele description [Variation Report for NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe)]

NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe)

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>T (p.Cys44Phe)

HGVS:

NC_000017.11:g.43115729C>A
NG_005905.2:g.102255G>T
NM_001407571.1:c.-58G>T
NM_001407581.1:c.131G>T
NM_001407582.1:c.131G>T
NM_001407583.1:c.131G>T
NM_001407585.1:c.131G>T
NM_001407587.1:c.131G>T
NM_001407590.1:c.131G>T
NM_001407591.1:c.131G>T
NM_001407593.1:c.131G>T
NM_001407594.1:c.131G>T
NM_001407596.1:c.131G>T
NM_001407597.1:c.131G>T
NM_001407598.1:c.131G>T
NM_001407602.1:c.131G>T
NM_001407603.1:c.131G>T
NM_001407605.1:c.131G>T
NM_001407610.1:c.131G>T
NM_001407611.1:c.131G>T
NM_001407612.1:c.131G>T
NM_001407613.1:c.131G>T
NM_001407614.1:c.131G>T
NM_001407615.1:c.131G>T
NM_001407616.1:c.131G>T
NM_001407617.1:c.131G>T
NM_001407618.1:c.131G>T
NM_001407619.1:c.131G>T
NM_001407620.1:c.131G>T
NM_001407621.1:c.131G>T
NM_001407622.1:c.131G>T
NM_001407623.1:c.131G>T
NM_001407624.1:c.131G>T
NM_001407625.1:c.131G>T
NM_001407626.1:c.131G>T
NM_001407627.1:c.131G>T
NM_001407628.1:c.131G>T
NM_001407629.1:c.131G>T
NM_001407630.1:c.131G>T
NM_001407631.1:c.131G>T
NM_001407632.1:c.131G>T
NM_001407633.1:c.131G>T
NM_001407634.1:c.131G>T
NM_001407635.1:c.131G>T
NM_001407636.1:c.131G>T
NM_001407637.1:c.131G>T
NM_001407638.1:c.131G>T
NM_001407639.1:c.131G>T
NM_001407640.1:c.131G>T
NM_001407641.1:c.131G>T
NM_001407642.1:c.131G>T
NM_001407644.1:c.131G>T
NM_001407645.1:c.131G>T
NM_001407646.1:c.131G>T
NM_001407647.1:c.131G>T
NM_001407648.1:c.131G>T
NM_001407649.1:c.131G>T
NM_001407652.1:c.131G>T
NM_001407653.1:c.131G>T
NM_001407654.1:c.131G>T
NM_001407655.1:c.131G>T
NM_001407656.1:c.131G>T
NM_001407657.1:c.131G>T
NM_001407658.1:c.131G>T
NM_001407659.1:c.131G>T
NM_001407660.1:c.131G>T
NM_001407661.1:c.131G>T
NM_001407662.1:c.131G>T
NM_001407663.1:c.131G>T
NM_001407664.1:c.131G>T
NM_001407665.1:c.131G>T
NM_001407666.1:c.131G>T
NM_001407667.1:c.131G>T
NM_001407668.1:c.131G>T
NM_001407669.1:c.131G>T
NM_001407670.1:c.131G>T
NM_001407671.1:c.131G>T
NM_001407672.1:c.131G>T
NM_001407673.1:c.131G>T
NM_001407674.1:c.131G>T
NM_001407675.1:c.131G>T
NM_001407676.1:c.131G>T
NM_001407677.1:c.131G>T
NM_001407678.1:c.131G>T
NM_001407679.1:c.131G>T
NM_001407680.1:c.131G>T
NM_001407681.1:c.131G>T
NM_001407682.1:c.131G>T
NM_001407683.1:c.131G>T
NM_001407684.1:c.131G>T
NM_001407685.1:c.131G>T
NM_001407686.1:c.131G>T
NM_001407687.1:c.131G>T
NM_001407688.1:c.131G>T
NM_001407689.1:c.131G>T
NM_001407690.1:c.131G>T
NM_001407691.1:c.131G>T
NM_001407694.1:c.-127G>T
NM_001407695.1:c.-131G>T
NM_001407696.1:c.-127G>T
NM_001407697.1:c.-11G>T
NM_001407724.1:c.-127G>T
NM_001407725.1:c.-11G>T
NM_001407727.1:c.-127G>T
NM_001407728.1:c.-11G>T
NM_001407729.1:c.-11G>T
NM_001407730.1:c.-11G>T
NM_001407731.1:c.-127G>T
NM_001407733.1:c.-127G>T
NM_001407734.1:c.-11G>T
NM_001407735.1:c.-11G>T
NM_001407737.1:c.-11G>T
NM_001407739.1:c.-11G>T
NM_001407740.1:c.-11G>T
NM_001407741.1:c.-11G>T
NM_001407743.1:c.-11G>T
NM_001407745.1:c.-11G>T
NM_001407746.1:c.-127G>T
NM_001407748.1:c.-11G>T
NM_001407749.1:c.-127G>T
NM_001407752.1:c.-11G>T
NM_001407838.1:c.-11G>T
NM_001407839.1:c.-11G>T
NM_001407842.1:c.-127G>T
NM_001407843.1:c.-127G>T
NM_001407844.1:c.-11G>T
NM_001407846.1:c.-11G>T
NM_001407847.1:c.-11G>T
NM_001407848.1:c.-11G>T
NM_001407850.1:c.-11G>T
NM_001407851.1:c.-11G>T
NM_001407853.1:c.-58G>T
NM_001407854.1:c.131G>T
NM_001407858.1:c.131G>T
NM_001407859.1:c.131G>T
NM_001407860.1:c.131G>T
NM_001407861.1:c.131G>T
NM_001407862.1:c.131G>T
NM_001407863.1:c.131G>T
NM_001407874.1:c.131G>T
NM_001407875.1:c.131G>T
NM_001407879.1:c.-58G>T
NM_001407882.1:c.-58G>T
NM_001407884.1:c.-58G>T
NM_001407885.1:c.-58G>T
NM_001407886.1:c.-58G>T
NM_001407887.1:c.-58G>T
NM_001407889.1:c.-174G>T
NM_001407894.1:c.-58G>T
NM_001407895.1:c.-58G>T
NM_001407896.1:c.-58G>T
NM_001407897.1:c.-58G>T
NM_001407899.1:c.-58G>T
NM_001407900.1:c.-174G>T
NM_001407904.1:c.-58G>T
NM_001407906.1:c.-58G>T
NM_001407907.1:c.-58G>T
NM_001407908.1:c.-58G>T
NM_001407909.1:c.-58G>T
NM_001407910.1:c.-58G>T
NM_001407915.1:c.-58G>T
NM_001407916.1:c.-58G>T
NM_001407917.1:c.-58G>T
NM_001407918.1:c.-58G>T
NM_001407919.1:c.131G>T
NM_001407920.1:c.-11G>T
NM_001407921.1:c.-11G>T
NM_001407922.1:c.-11G>T
NM_001407923.1:c.-11G>T
NM_001407926.1:c.-11G>T
NM_001407927.1:c.-11G>T
NM_001407930.1:c.-127G>T
NM_001407933.1:c.-11G>T
NM_001407934.1:c.-11G>T
NM_001407935.1:c.-11G>T
NM_001407937.1:c.131G>T
NM_001407938.1:c.131G>T
NM_001407939.1:c.131G>T
NM_001407940.1:c.131G>T
NM_001407941.1:c.131G>T
NM_001407942.1:c.-127G>T
NM_001407943.1:c.-11G>T
NM_001407944.1:c.-11G>T
NM_001407946.1:c.-58G>T
NM_001407947.1:c.-58G>T
NM_001407948.1:c.-58G>T
NM_001407949.1:c.-58G>T
NM_001407950.1:c.-58G>T
NM_001407951.1:c.-58G>T
NM_001407952.1:c.-58G>T
NM_001407953.1:c.-58G>T
NM_001407954.1:c.-58G>T
NM_001407955.1:c.-58G>T
NM_001407956.1:c.-58G>T
NM_001407957.1:c.-58G>T
NM_001407958.1:c.-58G>T
NM_001407960.1:c.-173G>T
NM_001407962.1:c.-173G>T
NM_001407964.1:c.-11G>T
NM_001407965.1:c.-289G>T
NM_001407968.1:c.131G>T
NM_001407969.1:c.131G>T
NM_001407970.1:c.131G>T
NM_001407971.1:c.131G>T
NM_001407972.1:c.131G>T
NM_001407973.1:c.131G>T
NM_001407974.1:c.131G>T
NM_001407975.1:c.131G>T
NM_001407976.1:c.131G>T
NM_001407977.1:c.131G>T
NM_001407978.1:c.131G>T
NM_001407979.1:c.131G>T
NM_001407980.1:c.131G>T
NM_001407981.1:c.131G>T
NM_001407982.1:c.131G>T
NM_001407983.1:c.131G>T
NM_001407984.1:c.131G>T
NM_001407985.1:c.131G>T
NM_001407986.1:c.131G>T
NM_001407990.1:c.131G>T
NM_001407991.1:c.131G>T
NM_001407992.1:c.131G>T
NM_001407993.1:c.131G>T
NM_001408392.1:c.131G>T
NM_001408396.1:c.131G>T
NM_001408397.1:c.131G>T
NM_001408398.1:c.131G>T
NM_001408399.1:c.131G>T
NM_001408400.1:c.131G>T
NM_001408401.1:c.131G>T
NM_001408402.1:c.131G>T
NM_001408403.1:c.131G>T
NM_001408404.1:c.131G>T
NM_001408406.1:c.131G>T
NM_001408407.1:c.131G>T
NM_001408408.1:c.131G>T
NM_001408409.1:c.131G>T
NM_001408410.1:c.-11G>T
NM_001408411.1:c.131G>T
NM_001408412.1:c.131G>T
NM_001408413.1:c.131G>T
NM_001408414.1:c.131G>T
NM_001408415.1:c.131G>T
NM_001408416.1:c.131G>T
NM_001408418.1:c.131G>T
NM_001408419.1:c.131G>T
NM_001408420.1:c.131G>T
NM_001408421.1:c.131G>T
NM_001408422.1:c.131G>T
NM_001408423.1:c.131G>T
NM_001408424.1:c.131G>T
NM_001408425.1:c.131G>T
NM_001408426.1:c.131G>T
NM_001408427.1:c.131G>T
NM_001408428.1:c.131G>T
NM_001408429.1:c.131G>T
NM_001408430.1:c.131G>T
NM_001408431.1:c.131G>T
NM_001408432.1:c.131G>T
NM_001408433.1:c.131G>T
NM_001408434.1:c.131G>T
NM_001408435.1:c.131G>T
NM_001408436.1:c.131G>T
NM_001408437.1:c.131G>T
NM_001408438.1:c.131G>T
NM_001408439.1:c.131G>T
NM_001408440.1:c.131G>T
NM_001408441.1:c.131G>T
NM_001408442.1:c.131G>T
NM_001408443.1:c.131G>T
NM_001408444.1:c.131G>T
NM_001408445.1:c.131G>T
NM_001408446.1:c.131G>T
NM_001408447.1:c.131G>T
NM_001408448.1:c.131G>T
NM_001408450.1:c.131G>T
NM_001408452.1:c.-11G>T
NM_001408453.1:c.-11G>T
NM_001408455.1:c.-127G>T
NM_001408456.1:c.-127G>T
NM_001408458.1:c.-11G>T
NM_001408462.1:c.-11G>T
NM_001408463.1:c.-11G>T
NM_001408465.1:c.-131G>T
NM_001408466.1:c.-11G>T
NM_001408468.1:c.-127G>T
NM_001408469.1:c.-11G>T
NM_001408470.1:c.-11G>T
NM_001408472.1:c.131G>T
NM_001408473.1:c.131G>T
NM_001408474.1:c.131G>T
NM_001408475.1:c.131G>T
NM_001408476.1:c.131G>T
NM_001408478.1:c.-58G>T
NM_001408479.1:c.-58G>T
NM_001408480.1:c.-58G>T
NM_001408481.1:c.-58G>T
NM_001408482.1:c.-58G>T
NM_001408483.1:c.-58G>T
NM_001408484.1:c.-58G>T
NM_001408485.1:c.-58G>T
NM_001408489.1:c.-58G>T
NM_001408490.1:c.-58G>T
NM_001408491.1:c.-58G>T
NM_001408492.1:c.-174G>T
NM_001408493.1:c.-58G>T
NM_001408494.1:c.131G>T
NM_001408495.1:c.131G>T
NM_001408497.1:c.-11G>T
NM_001408499.1:c.-11G>T
NM_001408500.1:c.-11G>T
NM_001408501.1:c.-127G>T
NM_001408502.1:c.-58G>T
NM_001408503.1:c.-11G>T
NM_001408504.1:c.-11G>T
NM_001408505.1:c.-11G>T
NM_001408506.1:c.-58G>T
NM_001408507.1:c.-58G>T
NM_001408508.1:c.-58G>T
NM_001408509.1:c.-58G>T
NM_001408510.1:c.-173G>T
NM_001408512.1:c.-173G>T
NM_001408513.1:c.-58G>T
NM_001408514.1:c.-58G>T
NM_007294.4:c.131G>TMANE SELECT
NM_007297.4:c.-8+8288G>T
NM_007298.4:c.131G>T
NM_007299.4:c.131G>T
NM_007300.4:c.131G>T
NM_007304.2:c.131G>T
NP_001394510.1:p.Cys44Phe
NP_001394511.1:p.Cys44Phe
NP_001394512.1:p.Cys44Phe
NP_001394514.1:p.Cys44Phe
NP_001394516.1:p.Cys44Phe
NP_001394519.1:p.Cys44Phe
NP_001394520.1:p.Cys44Phe
NP_001394522.1:p.Cys44Phe
NP_001394523.1:p.Cys44Phe
NP_001394525.1:p.Cys44Phe
NP_001394526.1:p.Cys44Phe
NP_001394527.1:p.Cys44Phe
NP_001394531.1:p.Cys44Phe
NP_001394532.1:p.Cys44Phe
NP_001394534.1:p.Cys44Phe
NP_001394539.1:p.Cys44Phe
NP_001394540.1:p.Cys44Phe
NP_001394541.1:p.Cys44Phe
NP_001394542.1:p.Cys44Phe
NP_001394543.1:p.Cys44Phe
NP_001394544.1:p.Cys44Phe
NP_001394545.1:p.Cys44Phe
NP_001394546.1:p.Cys44Phe
NP_001394547.1:p.Cys44Phe
NP_001394548.1:p.Cys44Phe
NP_001394549.1:p.Cys44Phe
NP_001394550.1:p.Cys44Phe
NP_001394551.1:p.Cys44Phe
NP_001394552.1:p.Cys44Phe
NP_001394553.1:p.Cys44Phe
NP_001394554.1:p.Cys44Phe
NP_001394555.1:p.Cys44Phe
NP_001394556.1:p.Cys44Phe
NP_001394557.1:p.Cys44Phe
NP_001394558.1:p.Cys44Phe
NP_001394559.1:p.Cys44Phe
NP_001394560.1:p.Cys44Phe
NP_001394561.1:p.Cys44Phe
NP_001394562.1:p.Cys44Phe
NP_001394563.1:p.Cys44Phe
NP_001394564.1:p.Cys44Phe
NP_001394565.1:p.Cys44Phe
NP_001394566.1:p.Cys44Phe
NP_001394567.1:p.Cys44Phe
NP_001394568.1:p.Cys44Phe
NP_001394569.1:p.Cys44Phe
NP_001394570.1:p.Cys44Phe
NP_001394571.1:p.Cys44Phe
NP_001394573.1:p.Cys44Phe
NP_001394574.1:p.Cys44Phe
NP_001394575.1:p.Cys44Phe
NP_001394576.1:p.Cys44Phe
NP_001394577.1:p.Cys44Phe
NP_001394578.1:p.Cys44Phe
NP_001394581.1:p.Cys44Phe
NP_001394582.1:p.Cys44Phe
NP_001394583.1:p.Cys44Phe
NP_001394584.1:p.Cys44Phe
NP_001394585.1:p.Cys44Phe
NP_001394586.1:p.Cys44Phe
NP_001394587.1:p.Cys44Phe
NP_001394588.1:p.Cys44Phe
NP_001394589.1:p.Cys44Phe
NP_001394590.1:p.Cys44Phe
NP_001394591.1:p.Cys44Phe
NP_001394592.1:p.Cys44Phe
NP_001394593.1:p.Cys44Phe
NP_001394594.1:p.Cys44Phe
NP_001394595.1:p.Cys44Phe
NP_001394596.1:p.Cys44Phe
NP_001394597.1:p.Cys44Phe
NP_001394598.1:p.Cys44Phe
NP_001394599.1:p.Cys44Phe
NP_001394600.1:p.Cys44Phe
NP_001394601.1:p.Cys44Phe
NP_001394602.1:p.Cys44Phe
NP_001394603.1:p.Cys44Phe
NP_001394604.1:p.Cys44Phe
NP_001394605.1:p.Cys44Phe
NP_001394606.1:p.Cys44Phe
NP_001394607.1:p.Cys44Phe
NP_001394608.1:p.Cys44Phe
NP_001394609.1:p.Cys44Phe
NP_001394610.1:p.Cys44Phe
NP_001394611.1:p.Cys44Phe
NP_001394612.1:p.Cys44Phe
NP_001394613.1:p.Cys44Phe
NP_001394614.1:p.Cys44Phe
NP_001394615.1:p.Cys44Phe
NP_001394616.1:p.Cys44Phe
NP_001394617.1:p.Cys44Phe
NP_001394618.1:p.Cys44Phe
NP_001394619.1:p.Cys44Phe
NP_001394620.1:p.Cys44Phe
NP_001394783.1:p.Cys44Phe
NP_001394787.1:p.Cys44Phe
NP_001394788.1:p.Cys44Phe
NP_001394789.1:p.Cys44Phe
NP_001394790.1:p.Cys44Phe
NP_001394791.1:p.Cys44Phe
NP_001394792.1:p.Cys44Phe
NP_001394803.1:p.Cys44Phe
NP_001394804.1:p.Cys44Phe
NP_001394848.1:p.Cys44Phe
NP_001394866.1:p.Cys44Phe
NP_001394867.1:p.Cys44Phe
NP_001394868.1:p.Cys44Phe
NP_001394869.1:p.Cys44Phe
NP_001394870.1:p.Cys44Phe
NP_001394897.1:p.Cys44Phe
NP_001394898.1:p.Cys44Phe
NP_001394899.1:p.Cys44Phe
NP_001394900.1:p.Cys44Phe
NP_001394901.1:p.Cys44Phe
NP_001394902.1:p.Cys44Phe
NP_001394903.1:p.Cys44Phe
NP_001394904.1:p.Cys44Phe
NP_001394905.1:p.Cys44Phe
NP_001394906.1:p.Cys44Phe
NP_001394907.1:p.Cys44Phe
NP_001394908.1:p.Cys44Phe
NP_001394909.1:p.Cys44Phe
NP_001394910.1:p.Cys44Phe
NP_001394911.1:p.Cys44Phe
NP_001394912.1:p.Cys44Phe
NP_001394913.1:p.Cys44Phe
NP_001394914.1:p.Cys44Phe
NP_001394915.1:p.Cys44Phe
NP_001394919.1:p.Cys44Phe
NP_001394920.1:p.Cys44Phe
NP_001394921.1:p.Cys44Phe
NP_001394922.1:p.Cys44Phe
NP_001395321.1:p.Cys44Phe
NP_001395325.1:p.Cys44Phe
NP_001395326.1:p.Cys44Phe
NP_001395327.1:p.Cys44Phe
NP_001395328.1:p.Cys44Phe
NP_001395329.1:p.Cys44Phe
NP_001395330.1:p.Cys44Phe
NP_001395331.1:p.Cys44Phe
NP_001395332.1:p.Cys44Phe
NP_001395333.1:p.Cys44Phe
NP_001395335.1:p.Cys44Phe
NP_001395336.1:p.Cys44Phe
NP_001395337.1:p.Cys44Phe
NP_001395338.1:p.Cys44Phe
NP_001395340.1:p.Cys44Phe
NP_001395341.1:p.Cys44Phe
NP_001395342.1:p.Cys44Phe
NP_001395343.1:p.Cys44Phe
NP_001395344.1:p.Cys44Phe
NP_001395345.1:p.Cys44Phe
NP_001395347.1:p.Cys44Phe
NP_001395348.1:p.Cys44Phe
NP_001395349.1:p.Cys44Phe
NP_001395350.1:p.Cys44Phe
NP_001395351.1:p.Cys44Phe
NP_001395352.1:p.Cys44Phe
NP_001395353.1:p.Cys44Phe
NP_001395354.1:p.Cys44Phe
NP_001395355.1:p.Cys44Phe
NP_001395356.1:p.Cys44Phe
NP_001395357.1:p.Cys44Phe
NP_001395358.1:p.Cys44Phe
NP_001395359.1:p.Cys44Phe
NP_001395360.1:p.Cys44Phe
NP_001395361.1:p.Cys44Phe
NP_001395362.1:p.Cys44Phe
NP_001395363.1:p.Cys44Phe
NP_001395364.1:p.Cys44Phe
NP_001395365.1:p.Cys44Phe
NP_001395366.1:p.Cys44Phe
NP_001395367.1:p.Cys44Phe
NP_001395368.1:p.Cys44Phe
NP_001395369.1:p.Cys44Phe
NP_001395370.1:p.Cys44Phe
NP_001395371.1:p.Cys44Phe
NP_001395372.1:p.Cys44Phe
NP_001395373.1:p.Cys44Phe
NP_001395374.1:p.Cys44Phe
NP_001395375.1:p.Cys44Phe
NP_001395376.1:p.Cys44Phe
NP_001395377.1:p.Cys44Phe
NP_001395379.1:p.Cys44Phe
NP_001395401.1:p.Cys44Phe
NP_001395402.1:p.Cys44Phe
NP_001395403.1:p.Cys44Phe
NP_001395404.1:p.Cys44Phe
NP_001395405.1:p.Cys44Phe
NP_001395423.1:p.Cys44Phe
NP_001395424.1:p.Cys44Phe
NP_009225.1:p.Cys44Phe
NP_009225.1:p.Cys44Phe
NP_009229.2:p.Cys44Phe
NP_009229.2:p.Cys44Phe
NP_009230.2:p.Cys44Phe
NP_009231.2:p.Cys44Phe
NP_009235.2:p.Cys44Phe
LRG_292t1:c.131G>T
LRG_292:g.102255G>T
LRG_292p1:p.Cys44Phe
NC_000017.10:g.41267746C>A
NM_007294.3:c.131G>T
NM_007298.3:c.131G>T
NM_007300.3:c.131G>T
NR_027676.2:n.333G>T
U14680.1:n.250G>T
p.C44F

Nucleotide change:

250G>T

Protein change:

C44F

Links:

dbSNP: rs80357446

NCBI 1000 Genomes Browser:

rs80357446

Molecular consequence:

NM_007297.4:c.-8+8288G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407581.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407968.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407969.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407970.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407971.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407972.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407973.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407974.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407975.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407976.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407977.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407978.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407979.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407980.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407981.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407982.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407983.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407984.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407985.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407986.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407990.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407991.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407992.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407993.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408392.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408396.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408397.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408398.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408399.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408400.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408401.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408402.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408403.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408404.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408406.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408407.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408408.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408409.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408411.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408412.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408413.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408414.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408415.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408416.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408418.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408419.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408420.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408421.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408422.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408423.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408424.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408425.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408426.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408427.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408428.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408429.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408430.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408431.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408432.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408433.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408434.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408435.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408436.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408437.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408438.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408439.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408440.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408441.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408442.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408443.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408444.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408445.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408446.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408447.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408448.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408450.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408472.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408473.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408474.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408475.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408476.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408494.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408495.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007298.4:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007299.4:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007304.2:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
NR_027676.2:n.333G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)

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

Recent activity

Clear Turn Off Turn On

Drosophila melanogaster vesicular acetylcholine transporter (VAChT), mRNA
Drosophila melanogaster vesicular acetylcholine transporter (VAChT), mRNA
gi|665394412|ref|NM_057790.5|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000587017	Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)	no assertion criteria provided	Likely pathogenic (Dec 17, 2015)	germline	research
SCV000918696	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Pathogenic (Mar 7, 2018)	germline	clinical testing	PubMed (11) [See all records that cite these PMIDs] 20103620, 27272900, 16912212, 28414925, 16267036, 16403807, 21725363, 25777348, 22713736, 23161852, 12048272 Citation Link,
SCV001591919	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 9, 2024)	germline	clinical testing	PubMed (17) [See all records that cite these PMIDs] 16267036, 18159056, 23633455, 25777348, 30209399, 12732733, 16403807, 20103620, 21725363, 22843421, 23161852, 27272900, 19543972, 21922593, 25823446, 27083775, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000587017

Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)

no assertion criteria provided

Likely pathogenic
(Dec 17, 2015)

germline

research

SCV000918696

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Pathogenic
(Mar 7, 2018)

germline

clinical testing

PubMed (11)
[See all records that cite these PMIDs]

Citation Link,

SCV001591919

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jan 9, 2024)

germline

clinical testing

PubMed (17)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Prevalence and predictors of BRCA1 and BRCA2 mutations in a population-based study of breast cancer in white and black American women ages 35 to 64 years.

Malone KE, Daling JR, Doody DR, Hsu L, Bernstein L, Coates RJ, Marchbanks PA, Simon MS, McDonald JA, Norman SA, Strom BL, Burkman RT, Ursin G, Deapen D, Weiss LK, Folger S, Madeoy JJ, Friedrichsen DM, Suter NM, Humphrey MC, Spirtas R, Ostrander EA.

Cancer Res. 2006 Aug 15;66(16):8297-308.

PubMed [citation]

PMID:: 16912212

Reversion of BRCA1/2 Germline Mutations Detected in Circulating Tumor DNA From Patients With High-Grade Serous Ovarian Cancer.

Christie EL, Fereday S, Doig K, Pattnaik S, Dawson SJ, Bowtell DDL.

J Clin Oncol. 2017 Apr 20;35(12):1274-1280. doi: 10.1200/JCO.2016.70.4627. Epub 2017 Feb 13.

PubMed [citation]

PMID:: 28414925

See all PubMed Citations (21)

Details of each submission

From Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587017.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	not provided

#	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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000918696.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (11)

Description

Variant summary: BRCA1 c.131G>T (p.Cys44Phe) results in a non-conservative amino acid change located in the RING binding domain of 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 245760 control chromosomes (gnomAD). The variant, c.131G>T, has been reported in the literature in multiple individuals affected with Hereditary Breast and Ovarian Cancer (Alsop_2012, Jalkh_2012, El Saghir_2015, Christie_2017, etc). These data indicate that the variant is very likely to be associated with disease. Multiple functional studies found that the variant significantly impacts proper BRCA1 protein function (Kais_2012, Morris_2006,Ransburgh_2010, Towler_2013, and Thouvenot_2016). Multiple ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as "likely pathogenic/pathogenic." 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 Labcorp Genetics (formerly Invitae), Labcorp, SCV001591919.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (17)

Description

This sequence change replaces cysteine, which is neutral and slightly polar, with phenylalanine, which is neutral and non-polar, at codon 44 of the BRCA1 protein (p.Cys44Phe). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with breast and or ovarian cancer (PMID: 16267036, 18159056, 23633455, 25777348). This variant is also known as 250G>T. ClinVar contains an entry for this variant (Variation ID: 54200). 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 with a positive predictive value of 95%. Experimental studies have shown that this missense change affects BRCA1 function (PMID: 12732733, 16403807, 20103620, 21725363, 22843421, 23161852, 27272900). This variant disrupts the p.Cys44 amino acid residue in BRCA1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 19543972, 21922593, 25823446, 27083775). 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: Nov 3, 2024

ClinVar

Relating variation to medicine