NM_007294.4(BRCA1):c.71G>A (p.Cys24Tyr) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Jun 27, 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:: RCV001378926.9

Allele description [Variation Report for NM_007294.4(BRCA1):c.71G>A (p.Cys24Tyr)]

NM_007294.4(BRCA1):c.71G>A (p.Cys24Tyr)

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.71G>A (p.Cys24Tyr)

HGVS:

NC_000017.11:g.43124026C>T
NG_005905.2:g.93958G>A
NM_001407571.1:c.-118G>A
NM_001407581.1:c.71G>A
NM_001407582.1:c.71G>A
NM_001407583.1:c.71G>A
NM_001407585.1:c.71G>A
NM_001407587.1:c.71G>A
NM_001407590.1:c.71G>A
NM_001407591.1:c.71G>A
NM_001407593.1:c.71G>A
NM_001407594.1:c.71G>A
NM_001407596.1:c.71G>A
NM_001407597.1:c.71G>A
NM_001407598.1:c.71G>A
NM_001407602.1:c.71G>A
NM_001407603.1:c.71G>A
NM_001407605.1:c.71G>A
NM_001407610.1:c.71G>A
NM_001407611.1:c.71G>A
NM_001407612.1:c.71G>A
NM_001407613.1:c.71G>A
NM_001407614.1:c.71G>A
NM_001407615.1:c.71G>A
NM_001407616.1:c.71G>A
NM_001407617.1:c.71G>A
NM_001407618.1:c.71G>A
NM_001407619.1:c.71G>A
NM_001407620.1:c.71G>A
NM_001407621.1:c.71G>A
NM_001407622.1:c.71G>A
NM_001407623.1:c.71G>A
NM_001407624.1:c.71G>A
NM_001407625.1:c.71G>A
NM_001407626.1:c.71G>A
NM_001407627.1:c.71G>A
NM_001407628.1:c.71G>A
NM_001407629.1:c.71G>A
NM_001407630.1:c.71G>A
NM_001407631.1:c.71G>A
NM_001407632.1:c.71G>A
NM_001407633.1:c.71G>A
NM_001407634.1:c.71G>A
NM_001407635.1:c.71G>A
NM_001407636.1:c.71G>A
NM_001407637.1:c.71G>A
NM_001407638.1:c.71G>A
NM_001407639.1:c.71G>A
NM_001407640.1:c.71G>A
NM_001407641.1:c.71G>A
NM_001407642.1:c.71G>A
NM_001407644.1:c.71G>A
NM_001407645.1:c.71G>A
NM_001407646.1:c.71G>A
NM_001407647.1:c.71G>A
NM_001407648.1:c.71G>A
NM_001407649.1:c.71G>A
NM_001407652.1:c.71G>A
NM_001407653.1:c.71G>A
NM_001407654.1:c.71G>A
NM_001407655.1:c.71G>A
NM_001407656.1:c.71G>A
NM_001407657.1:c.71G>A
NM_001407658.1:c.71G>A
NM_001407659.1:c.71G>A
NM_001407660.1:c.71G>A
NM_001407661.1:c.71G>A
NM_001407662.1:c.71G>A
NM_001407663.1:c.71G>A
NM_001407664.1:c.71G>A
NM_001407665.1:c.71G>A
NM_001407666.1:c.71G>A
NM_001407667.1:c.71G>A
NM_001407668.1:c.71G>A
NM_001407669.1:c.71G>A
NM_001407670.1:c.71G>A
NM_001407671.1:c.71G>A
NM_001407672.1:c.71G>A
NM_001407673.1:c.71G>A
NM_001407674.1:c.71G>A
NM_001407675.1:c.71G>A
NM_001407676.1:c.71G>A
NM_001407677.1:c.71G>A
NM_001407678.1:c.71G>A
NM_001407679.1:c.71G>A
NM_001407680.1:c.71G>A
NM_001407681.1:c.71G>A
NM_001407682.1:c.71G>A
NM_001407683.1:c.71G>A
NM_001407684.1:c.71G>A
NM_001407685.1:c.71G>A
NM_001407686.1:c.71G>A
NM_001407687.1:c.71G>A
NM_001407688.1:c.71G>A
NM_001407689.1:c.71G>A
NM_001407690.1:c.71G>A
NM_001407691.1:c.71G>A
NM_001407694.1:c.-187G>A
NM_001407695.1:c.-191G>A
NM_001407696.1:c.-332G>A
NM_001407697.1:c.-216G>A
NM_001407698.1:c.-17G>A
NM_001407724.1:c.-187G>A
NM_001407725.1:c.-190G>A
NM_001407726.1:c.-136G>A
NM_001407727.1:c.-187G>A
NM_001407730.1:c.-190G>A
NM_001407731.1:c.-187G>A
NM_001407732.1:c.-17G>A
NM_001407733.1:c.-187G>A
NM_001407734.1:c.-190G>A
NM_001407736.1:c.-17G>A
NM_001407738.1:c.-17G>A
NM_001407739.1:c.-190G>A
NM_001407740.1:c.-190G>A
NM_001407741.1:c.-194G>A
NM_001407742.1:c.-17G>A
NM_001407744.1:c.-17G>A
NM_001407748.1:c.-190G>A
NM_001407749.1:c.-187G>A
NM_001407750.1:c.-17G>A
NM_001407751.1:c.-136G>A
NM_001407752.1:c.-190G>A
NM_001407838.1:c.-190G>A
NM_001407841.1:c.-67G>A
NM_001407842.1:c.-187G>A
NM_001407843.1:c.-187G>A
NM_001407845.1:c.-17G>A
NM_001407846.1:c.-216G>A
NM_001407847.1:c.-190G>A
NM_001407849.1:c.-17G>A
NM_001407850.1:c.-190G>A
NM_001407852.1:c.-17G>A
NM_001407853.1:c.-118G>A
NM_001407854.1:c.71G>A
NM_001407858.1:c.71G>A
NM_001407859.1:c.71G>A
NM_001407860.1:c.71G>A
NM_001407861.1:c.71G>A
NM_001407862.1:c.71G>A
NM_001407863.1:c.71G>A
NM_001407874.1:c.71G>A
NM_001407875.1:c.71G>A
NM_001407879.1:c.-118G>A
NM_001407881.1:c.-64G>A
NM_001407882.1:c.-118G>A
NM_001407884.1:c.-118G>A
NM_001407886.1:c.-118G>A
NM_001407887.1:c.-118G>A
NM_001407889.1:c.-234G>A
NM_001407894.1:c.-118G>A
NM_001407895.1:c.-118G>A
NM_001407897.1:c.-118G>A
NM_001407898.1:c.-64G>A
NM_001407899.1:c.-118G>A
NM_001407902.1:c.-64G>A
NM_001407904.1:c.-118G>A
NM_001407906.1:c.-118G>A
NM_001407907.1:c.-118G>A
NM_001407908.1:c.-118G>A
NM_001407909.1:c.-118G>A
NM_001407910.1:c.-118G>A
NM_001407915.1:c.-118G>A
NM_001407916.1:c.-118G>A
NM_001407917.1:c.-237G>A
NM_001407918.1:c.-118G>A
NM_001407919.1:c.71G>A
NM_001407920.1:c.-216G>A
NM_001407921.1:c.-190G>A
NM_001407923.1:c.-190G>A
NM_001407924.1:c.-17G>A
NM_001407925.1:c.-17G>A
NM_001407927.1:c.-190G>A
NM_001407928.1:c.-17G>A
NM_001407929.1:c.-17G>A
NM_001407930.1:c.-187G>A
NM_001407932.1:c.-17G>A
NM_001407933.1:c.-190G>A
NM_001407934.1:c.-194G>A
NM_001407936.1:c.-17G>A
NM_001407937.1:c.71G>A
NM_001407938.1:c.71G>A
NM_001407939.1:c.71G>A
NM_001407940.1:c.71G>A
NM_001407941.1:c.71G>A
NM_001407942.1:c.-187G>A
NM_001407943.1:c.-190G>A
NM_001407944.1:c.-190G>A
NM_001407945.1:c.-17G>A
NM_001407946.1:c.-118G>A
NM_001407947.1:c.-118G>A
NM_001407948.1:c.-118G>A
NM_001407949.1:c.-118G>A
NM_001407950.1:c.-118G>A
NM_001407951.1:c.-118G>A
NM_001407952.1:c.-118G>A
NM_001407953.1:c.-118G>A
NM_001407954.1:c.-237G>A
NM_001407955.1:c.-118G>A
NM_001407956.1:c.-118G>A
NM_001407957.1:c.-118G>A
NM_001407958.1:c.-118G>A
NM_001407965.1:c.-349G>A
NM_001407968.1:c.71G>A
NM_001407969.1:c.71G>A
NM_001407970.1:c.71G>A
NM_001407971.1:c.71G>A
NM_001407972.1:c.71G>A
NM_001407973.1:c.71G>A
NM_001407974.1:c.71G>A
NM_001407975.1:c.71G>A
NM_001407976.1:c.71G>A
NM_001407977.1:c.71G>A
NM_001407978.1:c.71G>A
NM_001407979.1:c.71G>A
NM_001407980.1:c.71G>A
NM_001407981.1:c.71G>A
NM_001407982.1:c.71G>A
NM_001407983.1:c.71G>A
NM_001407984.1:c.71G>A
NM_001407985.1:c.71G>A
NM_001407986.1:c.71G>A
NM_001407990.1:c.71G>A
NM_001407991.1:c.71G>A
NM_001407992.1:c.71G>A
NM_001407993.1:c.71G>A
NM_001408392.1:c.71G>A
NM_001408396.1:c.71G>A
NM_001408397.1:c.71G>A
NM_001408398.1:c.71G>A
NM_001408399.1:c.71G>A
NM_001408400.1:c.71G>A
NM_001408401.1:c.71G>A
NM_001408402.1:c.71G>A
NM_001408403.1:c.71G>A
NM_001408404.1:c.71G>A
NM_001408406.1:c.71G>A
NM_001408407.1:c.71G>A
NM_001408408.1:c.71G>A
NM_001408409.1:c.71G>A
NM_001408410.1:c.-190G>A
NM_001408411.1:c.71G>A
NM_001408412.1:c.71G>A
NM_001408413.1:c.71G>A
NM_001408414.1:c.71G>A
NM_001408415.1:c.71G>A
NM_001408416.1:c.71G>A
NM_001408418.1:c.71G>A
NM_001408419.1:c.71G>A
NM_001408420.1:c.71G>A
NM_001408421.1:c.71G>A
NM_001408422.1:c.71G>A
NM_001408423.1:c.71G>A
NM_001408424.1:c.71G>A
NM_001408425.1:c.71G>A
NM_001408426.1:c.71G>A
NM_001408427.1:c.71G>A
NM_001408428.1:c.71G>A
NM_001408429.1:c.71G>A
NM_001408430.1:c.71G>A
NM_001408431.1:c.71G>A
NM_001408432.1:c.71G>A
NM_001408433.1:c.71G>A
NM_001408434.1:c.71G>A
NM_001408435.1:c.71G>A
NM_001408436.1:c.71G>A
NM_001408437.1:c.71G>A
NM_001408438.1:c.71G>A
NM_001408439.1:c.71G>A
NM_001408440.1:c.71G>A
NM_001408441.1:c.71G>A
NM_001408442.1:c.71G>A
NM_001408443.1:c.71G>A
NM_001408444.1:c.71G>A
NM_001408445.1:c.71G>A
NM_001408446.1:c.71G>A
NM_001408447.1:c.71G>A
NM_001408448.1:c.71G>A
NM_001408450.1:c.71G>A
NM_001408451.1:c.71G>A
NM_001408452.1:c.-190G>A
NM_001408454.1:c.-17G>A
NM_001408455.1:c.-187G>A
NM_001408456.1:c.-187G>A
NM_001408459.1:c.-17G>A
NM_001408460.1:c.-17G>A
NM_001408461.1:c.-17G>A
NM_001408462.1:c.-190G>A
NM_001408463.1:c.-190G>A
NM_001408464.1:c.-17G>A
NM_001408465.1:c.-191G>A
NM_001408466.1:c.-190G>A
NM_001408467.1:c.-17G>A
NM_001408468.1:c.-187G>A
NM_001408472.1:c.71G>A
NM_001408473.1:c.71G>A
NM_001408474.1:c.71G>A
NM_001408475.1:c.71G>A
NM_001408476.1:c.71G>A
NM_001408478.1:c.-118G>A
NM_001408479.1:c.-118G>A
NM_001408480.1:c.-118G>A
NM_001408481.1:c.-118G>A
NM_001408482.1:c.-263G>A
NM_001408483.1:c.-118G>A
NM_001408484.1:c.-118G>A
NM_001408485.1:c.-118G>A
NM_001408489.1:c.-118G>A
NM_001408490.1:c.-118G>A
NM_001408491.1:c.-118G>A
NM_001408492.1:c.-234G>A
NM_001408493.1:c.-118G>A
NM_001408494.1:c.71G>A
NM_001408495.1:c.71G>A
NM_001408496.1:c.-17G>A
NM_001408497.1:c.-194G>A
NM_001408498.1:c.-17G>A
NM_001408499.1:c.-190G>A
NM_001408500.1:c.-190G>A
NM_001408501.1:c.-187G>A
NM_001408502.1:c.-118G>A
NM_001408503.1:c.-190G>A
NM_001408504.1:c.-190G>A
NM_001408506.1:c.-118G>A
NM_001408507.1:c.-118G>A
NM_001408508.1:c.-118G>A
NM_001408509.1:c.-118G>A
NM_001408513.1:c.-237G>A
NM_001408514.1:c.-118G>A
NM_007294.4:c.71G>AMANE SELECT
NM_007297.4:c.-17G>A
NM_007298.4:c.71G>A
NM_007299.4:c.71G>A
NM_007300.4:c.71G>A
NM_007304.2:c.71G>A
NP_001394510.1:p.Cys24Tyr
NP_001394511.1:p.Cys24Tyr
NP_001394512.1:p.Cys24Tyr
NP_001394514.1:p.Cys24Tyr
NP_001394516.1:p.Cys24Tyr
NP_001394519.1:p.Cys24Tyr
NP_001394520.1:p.Cys24Tyr
NP_001394522.1:p.Cys24Tyr
NP_001394523.1:p.Cys24Tyr
NP_001394525.1:p.Cys24Tyr
NP_001394526.1:p.Cys24Tyr
NP_001394527.1:p.Cys24Tyr
NP_001394531.1:p.Cys24Tyr
NP_001394532.1:p.Cys24Tyr
NP_001394534.1:p.Cys24Tyr
NP_001394539.1:p.Cys24Tyr
NP_001394540.1:p.Cys24Tyr
NP_001394541.1:p.Cys24Tyr
NP_001394542.1:p.Cys24Tyr
NP_001394543.1:p.Cys24Tyr
NP_001394544.1:p.Cys24Tyr
NP_001394545.1:p.Cys24Tyr
NP_001394546.1:p.Cys24Tyr
NP_001394547.1:p.Cys24Tyr
NP_001394548.1:p.Cys24Tyr
NP_001394549.1:p.Cys24Tyr
NP_001394550.1:p.Cys24Tyr
NP_001394551.1:p.Cys24Tyr
NP_001394552.1:p.Cys24Tyr
NP_001394553.1:p.Cys24Tyr
NP_001394554.1:p.Cys24Tyr
NP_001394555.1:p.Cys24Tyr
NP_001394556.1:p.Cys24Tyr
NP_001394557.1:p.Cys24Tyr
NP_001394558.1:p.Cys24Tyr
NP_001394559.1:p.Cys24Tyr
NP_001394560.1:p.Cys24Tyr
NP_001394561.1:p.Cys24Tyr
NP_001394562.1:p.Cys24Tyr
NP_001394563.1:p.Cys24Tyr
NP_001394564.1:p.Cys24Tyr
NP_001394565.1:p.Cys24Tyr
NP_001394566.1:p.Cys24Tyr
NP_001394567.1:p.Cys24Tyr
NP_001394568.1:p.Cys24Tyr
NP_001394569.1:p.Cys24Tyr
NP_001394570.1:p.Cys24Tyr
NP_001394571.1:p.Cys24Tyr
NP_001394573.1:p.Cys24Tyr
NP_001394574.1:p.Cys24Tyr
NP_001394575.1:p.Cys24Tyr
NP_001394576.1:p.Cys24Tyr
NP_001394577.1:p.Cys24Tyr
NP_001394578.1:p.Cys24Tyr
NP_001394581.1:p.Cys24Tyr
NP_001394582.1:p.Cys24Tyr
NP_001394583.1:p.Cys24Tyr
NP_001394584.1:p.Cys24Tyr
NP_001394585.1:p.Cys24Tyr
NP_001394586.1:p.Cys24Tyr
NP_001394587.1:p.Cys24Tyr
NP_001394588.1:p.Cys24Tyr
NP_001394589.1:p.Cys24Tyr
NP_001394590.1:p.Cys24Tyr
NP_001394591.1:p.Cys24Tyr
NP_001394592.1:p.Cys24Tyr
NP_001394593.1:p.Cys24Tyr
NP_001394594.1:p.Cys24Tyr
NP_001394595.1:p.Cys24Tyr
NP_001394596.1:p.Cys24Tyr
NP_001394597.1:p.Cys24Tyr
NP_001394598.1:p.Cys24Tyr
NP_001394599.1:p.Cys24Tyr
NP_001394600.1:p.Cys24Tyr
NP_001394601.1:p.Cys24Tyr
NP_001394602.1:p.Cys24Tyr
NP_001394603.1:p.Cys24Tyr
NP_001394604.1:p.Cys24Tyr
NP_001394605.1:p.Cys24Tyr
NP_001394606.1:p.Cys24Tyr
NP_001394607.1:p.Cys24Tyr
NP_001394608.1:p.Cys24Tyr
NP_001394609.1:p.Cys24Tyr
NP_001394610.1:p.Cys24Tyr
NP_001394611.1:p.Cys24Tyr
NP_001394612.1:p.Cys24Tyr
NP_001394613.1:p.Cys24Tyr
NP_001394614.1:p.Cys24Tyr
NP_001394615.1:p.Cys24Tyr
NP_001394616.1:p.Cys24Tyr
NP_001394617.1:p.Cys24Tyr
NP_001394618.1:p.Cys24Tyr
NP_001394619.1:p.Cys24Tyr
NP_001394620.1:p.Cys24Tyr
NP_001394783.1:p.Cys24Tyr
NP_001394787.1:p.Cys24Tyr
NP_001394788.1:p.Cys24Tyr
NP_001394789.1:p.Cys24Tyr
NP_001394790.1:p.Cys24Tyr
NP_001394791.1:p.Cys24Tyr
NP_001394792.1:p.Cys24Tyr
NP_001394803.1:p.Cys24Tyr
NP_001394804.1:p.Cys24Tyr
NP_001394848.1:p.Cys24Tyr
NP_001394866.1:p.Cys24Tyr
NP_001394867.1:p.Cys24Tyr
NP_001394868.1:p.Cys24Tyr
NP_001394869.1:p.Cys24Tyr
NP_001394870.1:p.Cys24Tyr
NP_001394897.1:p.Cys24Tyr
NP_001394898.1:p.Cys24Tyr
NP_001394899.1:p.Cys24Tyr
NP_001394900.1:p.Cys24Tyr
NP_001394901.1:p.Cys24Tyr
NP_001394902.1:p.Cys24Tyr
NP_001394903.1:p.Cys24Tyr
NP_001394904.1:p.Cys24Tyr
NP_001394905.1:p.Cys24Tyr
NP_001394906.1:p.Cys24Tyr
NP_001394907.1:p.Cys24Tyr
NP_001394908.1:p.Cys24Tyr
NP_001394909.1:p.Cys24Tyr
NP_001394910.1:p.Cys24Tyr
NP_001394911.1:p.Cys24Tyr
NP_001394912.1:p.Cys24Tyr
NP_001394913.1:p.Cys24Tyr
NP_001394914.1:p.Cys24Tyr
NP_001394915.1:p.Cys24Tyr
NP_001394919.1:p.Cys24Tyr
NP_001394920.1:p.Cys24Tyr
NP_001394921.1:p.Cys24Tyr
NP_001394922.1:p.Cys24Tyr
NP_001395321.1:p.Cys24Tyr
NP_001395325.1:p.Cys24Tyr
NP_001395326.1:p.Cys24Tyr
NP_001395327.1:p.Cys24Tyr
NP_001395328.1:p.Cys24Tyr
NP_001395329.1:p.Cys24Tyr
NP_001395330.1:p.Cys24Tyr
NP_001395331.1:p.Cys24Tyr
NP_001395332.1:p.Cys24Tyr
NP_001395333.1:p.Cys24Tyr
NP_001395335.1:p.Cys24Tyr
NP_001395336.1:p.Cys24Tyr
NP_001395337.1:p.Cys24Tyr
NP_001395338.1:p.Cys24Tyr
NP_001395340.1:p.Cys24Tyr
NP_001395341.1:p.Cys24Tyr
NP_001395342.1:p.Cys24Tyr
NP_001395343.1:p.Cys24Tyr
NP_001395344.1:p.Cys24Tyr
NP_001395345.1:p.Cys24Tyr
NP_001395347.1:p.Cys24Tyr
NP_001395348.1:p.Cys24Tyr
NP_001395349.1:p.Cys24Tyr
NP_001395350.1:p.Cys24Tyr
NP_001395351.1:p.Cys24Tyr
NP_001395352.1:p.Cys24Tyr
NP_001395353.1:p.Cys24Tyr
NP_001395354.1:p.Cys24Tyr
NP_001395355.1:p.Cys24Tyr
NP_001395356.1:p.Cys24Tyr
NP_001395357.1:p.Cys24Tyr
NP_001395358.1:p.Cys24Tyr
NP_001395359.1:p.Cys24Tyr
NP_001395360.1:p.Cys24Tyr
NP_001395361.1:p.Cys24Tyr
NP_001395362.1:p.Cys24Tyr
NP_001395363.1:p.Cys24Tyr
NP_001395364.1:p.Cys24Tyr
NP_001395365.1:p.Cys24Tyr
NP_001395366.1:p.Cys24Tyr
NP_001395367.1:p.Cys24Tyr
NP_001395368.1:p.Cys24Tyr
NP_001395369.1:p.Cys24Tyr
NP_001395370.1:p.Cys24Tyr
NP_001395371.1:p.Cys24Tyr
NP_001395372.1:p.Cys24Tyr
NP_001395373.1:p.Cys24Tyr
NP_001395374.1:p.Cys24Tyr
NP_001395375.1:p.Cys24Tyr
NP_001395376.1:p.Cys24Tyr
NP_001395377.1:p.Cys24Tyr
NP_001395379.1:p.Cys24Tyr
NP_001395380.1:p.Cys24Tyr
NP_001395401.1:p.Cys24Tyr
NP_001395402.1:p.Cys24Tyr
NP_001395403.1:p.Cys24Tyr
NP_001395404.1:p.Cys24Tyr
NP_001395405.1:p.Cys24Tyr
NP_001395423.1:p.Cys24Tyr
NP_001395424.1:p.Cys24Tyr
NP_009225.1:p.Cys24Tyr
NP_009225.1:p.Cys24Tyr
NP_009229.2:p.Cys24Tyr
NP_009229.2:p.Cys24Tyr
NP_009230.2:p.Cys24Tyr
NP_009231.2:p.Cys24Tyr
NP_009235.2:p.Cys24Tyr
LRG_292t1:c.71G>A
LRG_292:g.93958G>A
LRG_292p1:p.Cys24Tyr
NC_000017.10:g.41276043C>T
NM_007294.3:c.71G>A
NM_007298.3:c.71G>A
NR_027676.2:n.273G>A
U14680.1:n.190G>A
p.C24Y

Protein change:

C24Y

Links:

dbSNP: rs80357198

NCBI 1000 Genomes Browser:

rs80357198

Molecular consequence:

NM_007297.4:c.-17G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407581.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407968.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407969.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407970.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407971.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407972.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407973.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407974.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407975.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407976.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407977.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407978.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407979.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407980.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407981.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407982.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407983.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407984.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407985.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407986.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407990.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407991.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407992.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407993.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408392.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408396.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408397.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408398.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408399.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408400.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408401.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408402.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408403.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408404.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408406.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408407.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408408.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408409.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408411.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408412.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408413.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408414.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408415.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408416.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408418.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408419.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408420.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408421.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408422.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408423.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408424.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408425.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408426.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408427.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408428.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408429.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408430.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408431.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408432.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408433.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408434.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408435.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408436.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408437.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408438.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408439.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408440.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408441.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408442.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408443.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408444.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408445.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408446.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408447.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408448.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408450.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408451.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408472.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408473.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408474.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408475.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408476.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408494.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408495.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007298.4:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007299.4:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007304.2:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_027676.2:n.273G>A - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000699297	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Likely pathogenic (Jun 27, 2024)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 18489799, 24249303, 26187060, 25823446, 29176636, 30209399 Citation Link,
SCV001576627	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Dec 11, 2023)	germline	clinical testing	PubMed (8) [See all records that cite these PMIDs] 18489799, 24249303, 29176636, 21725363, 23161852, 25823446, 30209399, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000699297

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

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Likely pathogenic
(Jun 27, 2024)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link,

SCV001576627

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Dec 11, 2023)

germline

clinical testing

PubMed (8)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries.

Kwong A, Shin VY, Ho JC, Kang E, Nakamura S, Teo SH, Lee AS, Sng JH, Ginsburg OM, Kurian AW, Weitzel JN, Siu MT, Law FB, Chan TL, Narod SA, Ford JM, Ma ES, Kim SW.

J Med Genet. 2016 Jan;53(1):15-23. doi: 10.1136/jmedgenet-2015-103132. Epub 2015 Jul 17. Review.

PubMed [citation]

PMID:: 26187060
PMCID:: PMC4681590

Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.

Machackova E, Foretova L, Lukesova M, Vasickova P, Navratilova M, Coene I, Pavlu H, Kosinova V, Kuklova J, Claes K.

BMC Cancer. 2008 May 20;8:140. doi: 10.1186/1471-2407-8-140.

PubMed [citation]

PMID:: 18489799
PMCID:: PMC2413254

See all PubMed Citations (9)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699297.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

Variant summary: BRCA1 c.71G>A (p.Cys24Tyr) results in a non-conservative amino acid change located in the zinc finger, RING-type domain (IPR001841) 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 251050 control chromosomes. c.71G>A has been reported in the literature in individuals undergoing genetic testing for a personal and/or family history of breast and/or ovarian cancer (e.g. Machackova_2008, Nakamura_2013, Kwong_2015, Arai_2018). These reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. Functional studies evaluating an impact on protein function showed a damaging effect of this variant on E3 ubiquitin ligase activity, it ability to bind to the BARD1 RING domain, and on homology directed repair (HDR) activity (e.g. Starita_2015, Findlay_2018). The following publications have been ascertained in the context of this evaluation (PMID: 29176636, 30209399, 26187060, 18489799, 24249303, 25823446). ClinVar contains an entry for this variant (Variation ID: 55678). Based on the evidence outlined above, the variant was classified as likely 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, SCV001576627.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (8)

Description

This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 24 of the BRCA1 protein (p.Cys24Tyr). 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: 18489799, 24249303, 29176636). This variant is also known as 190G>A. ClinVar contains an entry for this variant (Variation ID: 55678). 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: 25823446, 30209399). This variant disrupts the p.Cys24 amino acid residue in BRCA1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 21725363, 23161852, 25823446, 30209399). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

ClinVar

Relating variation to medicine