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NM_007294.4(BRCA1):c.71G>A (p.Cys24Tyr) AND not provided

Germline classification:
no classifications from unflagged records (1 submission)
Last evaluated:
Mar 20, 2024
Review status:
no classifications from unflagged records
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:
RCV000588602.3

Allele description

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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

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

Citations

PubMed

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

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699297.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

Variant summary: The BRCA1 c.71G>A (p.Cys24Tyr) variant involves the alteration of a conserved nucleotide. 4/4 in silico tools predict a damaging outcome for this variant. Cys24 is located in the highly conserved amino-terminal zinc RING domain; truncation studies have shown that the RING domain may function in direct protein binding of ER-, ATF1, and BARD1, a ubiquitin ligase (PMID: 11244506, PMID: 10945975, PMID: 11278247). Cysteine residues are known to be essential for Zn ion coordination and for proper folding of the RING domain of the BRCA1 protein (PMID: 11573085). Mutations of these Cysteine residues are known to be clinically relevant, and predispose individuals to cancer (BIC, HGMD). Additionally, another Likely Pathogenic missense mutation, p.C24R (c.70T>C), at the same amino acid position has been reported in multiple breast cancer patients in the same family reported in the BIC database, suggesting that Cys24 is a mutational hotspot. Multiple independent functional studies have demonstrated that p.C24R results in a loss of homology directed repair activity of BRCA1 in addition to a loss of E3 ubiquitin ligase activity as well as its ability to bind to the RING domain of the BARD1 protein (PMIDs: 21725363, 20103620, 11320250, 23161852). These functional studies suggest that Cys24 is not tolerant to missense changes.The variant of interest, BRCA1 c.71G>A (p.Cys24Tyr), was absent in 120972 control chromosomes, but has been reported in the literature in two individuals without significant evidence of causality (co-occurrence, co-segregation, family history, nor clinical data were provided). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as uncertain significance. Taken together, this variant is classified as a VUS until additional information is available.

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

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000699297Women's Health and Genetics/Laboratory Corporation of America, LabCorp
flagged submission
Reason: Older claim that does not account for recent evidence
Notes: None

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Sep 12, 2016) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

Last Updated: Jul 15, 2024