NM_007294.4(BRCA1):c.1934C>A (p.Ser645Tyr) AND Hereditary cancer-predisposing syndrome

Germline classification:: Conflicting classifications of pathogenicity (3 submissions)
Last evaluated:: Jun 15, 2023
Review status:: criteria provided, conflicting classifications

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:: RCV000129530.15

Allele description [Variation Report for NM_007294.4(BRCA1):c.1934C>A (p.Ser645Tyr)]

NM_007294.4(BRCA1):c.1934C>A (p.Ser645Tyr)

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.1934C>A (p.Ser645Tyr)

HGVS:

NC_000017.11:g.43093597G>T
NG_005905.2:g.124387C>A
NM_001407571.1:c.1721C>A
NM_001407581.1:c.1934C>A
NM_001407582.1:c.1934C>A
NM_001407583.1:c.1934C>A
NM_001407585.1:c.1934C>A
NM_001407587.1:c.1931C>A
NM_001407590.1:c.1931C>A
NM_001407591.1:c.1931C>A
NM_001407593.1:c.1934C>A
NM_001407594.1:c.1934C>A
NM_001407596.1:c.1934C>A
NM_001407597.1:c.1934C>A
NM_001407598.1:c.1934C>A
NM_001407602.1:c.1934C>A
NM_001407603.1:c.1934C>A
NM_001407605.1:c.1934C>A
NM_001407610.1:c.1931C>A
NM_001407611.1:c.1931C>A
NM_001407612.1:c.1931C>A
NM_001407613.1:c.1931C>A
NM_001407614.1:c.1931C>A
NM_001407615.1:c.1931C>A
NM_001407616.1:c.1934C>A
NM_001407617.1:c.1934C>A
NM_001407618.1:c.1934C>A
NM_001407619.1:c.1934C>A
NM_001407620.1:c.1934C>A
NM_001407621.1:c.1934C>A
NM_001407622.1:c.1934C>A
NM_001407623.1:c.1934C>A
NM_001407624.1:c.1934C>A
NM_001407625.1:c.1934C>A
NM_001407626.1:c.1934C>A
NM_001407627.1:c.1931C>A
NM_001407628.1:c.1931C>A
NM_001407629.1:c.1931C>A
NM_001407630.1:c.1931C>A
NM_001407631.1:c.1931C>A
NM_001407632.1:c.1931C>A
NM_001407633.1:c.1931C>A
NM_001407634.1:c.1931C>A
NM_001407635.1:c.1931C>A
NM_001407636.1:c.1931C>A
NM_001407637.1:c.1931C>A
NM_001407638.1:c.1931C>A
NM_001407639.1:c.1934C>A
NM_001407640.1:c.1934C>A
NM_001407641.1:c.1934C>A
NM_001407642.1:c.1934C>A
NM_001407644.1:c.1931C>A
NM_001407645.1:c.1931C>A
NM_001407646.1:c.1925C>A
NM_001407647.1:c.1925C>A
NM_001407648.1:c.1811C>A
NM_001407649.1:c.1808C>A
NM_001407652.1:c.1934C>A
NM_001407653.1:c.1856C>A
NM_001407654.1:c.1856C>A
NM_001407655.1:c.1856C>A
NM_001407656.1:c.1856C>A
NM_001407657.1:c.1856C>A
NM_001407658.1:c.1856C>A
NM_001407659.1:c.1853C>A
NM_001407660.1:c.1853C>A
NM_001407661.1:c.1853C>A
NM_001407662.1:c.1853C>A
NM_001407663.1:c.1856C>A
NM_001407664.1:c.1811C>A
NM_001407665.1:c.1811C>A
NM_001407666.1:c.1811C>A
NM_001407667.1:c.1811C>A
NM_001407668.1:c.1811C>A
NM_001407669.1:c.1811C>A
NM_001407670.1:c.1808C>A
NM_001407671.1:c.1808C>A
NM_001407672.1:c.1808C>A
NM_001407673.1:c.1808C>A
NM_001407674.1:c.1811C>A
NM_001407675.1:c.1811C>A
NM_001407676.1:c.1811C>A
NM_001407677.1:c.1811C>A
NM_001407678.1:c.1811C>A
NM_001407679.1:c.1811C>A
NM_001407680.1:c.1811C>A
NM_001407681.1:c.1811C>A
NM_001407682.1:c.1811C>A
NM_001407683.1:c.1811C>A
NM_001407684.1:c.1934C>A
NM_001407685.1:c.1808C>A
NM_001407686.1:c.1808C>A
NM_001407687.1:c.1808C>A
NM_001407688.1:c.1808C>A
NM_001407689.1:c.1808C>A
NM_001407690.1:c.1808C>A
NM_001407691.1:c.1808C>A
NM_001407692.1:c.1793C>A
NM_001407694.1:c.1793C>A
NM_001407695.1:c.1793C>A
NM_001407696.1:c.1793C>A
NM_001407697.1:c.1793C>A
NM_001407698.1:c.1793C>A
NM_001407724.1:c.1793C>A
NM_001407725.1:c.1793C>A
NM_001407726.1:c.1793C>A
NM_001407727.1:c.1793C>A
NM_001407728.1:c.1793C>A
NM_001407729.1:c.1793C>A
NM_001407730.1:c.1793C>A
NM_001407731.1:c.1793C>A
NM_001407732.1:c.1793C>A
NM_001407733.1:c.1793C>A
NM_001407734.1:c.1793C>A
NM_001407735.1:c.1793C>A
NM_001407736.1:c.1793C>A
NM_001407737.1:c.1793C>A
NM_001407738.1:c.1793C>A
NM_001407739.1:c.1793C>A
NM_001407740.1:c.1790C>A
NM_001407741.1:c.1790C>A
NM_001407742.1:c.1790C>A
NM_001407743.1:c.1790C>A
NM_001407744.1:c.1790C>A
NM_001407745.1:c.1790C>A
NM_001407746.1:c.1790C>A
NM_001407747.1:c.1790C>A
NM_001407748.1:c.1790C>A
NM_001407749.1:c.1790C>A
NM_001407750.1:c.1793C>A
NM_001407751.1:c.1793C>A
NM_001407752.1:c.1793C>A
NM_001407838.1:c.1790C>A
NM_001407839.1:c.1790C>A
NM_001407841.1:c.1790C>A
NM_001407842.1:c.1790C>A
NM_001407843.1:c.1790C>A
NM_001407844.1:c.1790C>A
NM_001407845.1:c.1790C>A
NM_001407846.1:c.1790C>A
NM_001407847.1:c.1790C>A
NM_001407848.1:c.1790C>A
NM_001407849.1:c.1790C>A
NM_001407850.1:c.1793C>A
NM_001407851.1:c.1793C>A
NM_001407852.1:c.1793C>A
NM_001407853.1:c.1721C>A
NM_001407854.1:c.1934C>A
NM_001407858.1:c.1934C>A
NM_001407859.1:c.1934C>A
NM_001407860.1:c.1931C>A
NM_001407861.1:c.1931C>A
NM_001407862.1:c.1733C>A
NM_001407863.1:c.1811C>A
NM_001407874.1:c.1730C>A
NM_001407875.1:c.1730C>A
NM_001407879.1:c.1724C>A
NM_001407881.1:c.1724C>A
NM_001407882.1:c.1724C>A
NM_001407884.1:c.1724C>A
NM_001407885.1:c.1724C>A
NM_001407886.1:c.1724C>A
NM_001407887.1:c.1724C>A
NM_001407889.1:c.1724C>A
NM_001407894.1:c.1721C>A
NM_001407895.1:c.1721C>A
NM_001407896.1:c.1721C>A
NM_001407897.1:c.1721C>A
NM_001407898.1:c.1721C>A
NM_001407899.1:c.1721C>A
NM_001407900.1:c.1724C>A
NM_001407902.1:c.1724C>A
NM_001407904.1:c.1724C>A
NM_001407906.1:c.1724C>A
NM_001407907.1:c.1724C>A
NM_001407908.1:c.1724C>A
NM_001407909.1:c.1724C>A
NM_001407910.1:c.1724C>A
NM_001407915.1:c.1721C>A
NM_001407916.1:c.1721C>A
NM_001407917.1:c.1721C>A
NM_001407918.1:c.1721C>A
NM_001407919.1:c.1811C>A
NM_001407920.1:c.1670C>A
NM_001407921.1:c.1670C>A
NM_001407922.1:c.1670C>A
NM_001407923.1:c.1670C>A
NM_001407924.1:c.1670C>A
NM_001407925.1:c.1670C>A
NM_001407926.1:c.1670C>A
NM_001407927.1:c.1670C>A
NM_001407928.1:c.1670C>A
NM_001407929.1:c.1670C>A
NM_001407930.1:c.1667C>A
NM_001407931.1:c.1667C>A
NM_001407932.1:c.1667C>A
NM_001407933.1:c.1670C>A
NM_001407934.1:c.1667C>A
NM_001407935.1:c.1670C>A
NM_001407936.1:c.1667C>A
NM_001407937.1:c.1811C>A
NM_001407938.1:c.1811C>A
NM_001407939.1:c.1811C>A
NM_001407940.1:c.1808C>A
NM_001407941.1:c.1808C>A
NM_001407942.1:c.1793C>A
NM_001407943.1:c.1790C>A
NM_001407944.1:c.1793C>A
NM_001407945.1:c.1793C>A
NM_001407946.1:c.1601C>A
NM_001407947.1:c.1601C>A
NM_001407948.1:c.1601C>A
NM_001407949.1:c.1601C>A
NM_001407950.1:c.1601C>A
NM_001407951.1:c.1601C>A
NM_001407952.1:c.1601C>A
NM_001407953.1:c.1601C>A
NM_001407954.1:c.1598C>A
NM_001407955.1:c.1598C>A
NM_001407956.1:c.1598C>A
NM_001407957.1:c.1601C>A
NM_001407958.1:c.1598C>A
NM_001407959.1:c.1553C>A
NM_001407960.1:c.1553C>A
NM_001407962.1:c.1550C>A
NM_001407963.1:c.1553C>A
NM_001407964.1:c.1790C>A
NM_001407965.1:c.1430C>A
NM_001407966.1:c.1046C>A
NM_001407967.1:c.1046C>A
NM_001407968.1:c.787+1147C>A
NM_001407969.1:c.787+1147C>A
NM_001407970.1:c.787+1147C>A
NM_001407971.1:c.787+1147C>A
NM_001407972.1:c.784+1147C>A
NM_001407973.1:c.787+1147C>A
NM_001407974.1:c.787+1147C>A
NM_001407975.1:c.787+1147C>A
NM_001407976.1:c.787+1147C>A
NM_001407977.1:c.787+1147C>A
NM_001407978.1:c.787+1147C>A
NM_001407979.1:c.787+1147C>A
NM_001407980.1:c.787+1147C>A
NM_001407981.1:c.787+1147C>A
NM_001407982.1:c.787+1147C>A
NM_001407983.1:c.787+1147C>A
NM_001407984.1:c.784+1147C>A
NM_001407985.1:c.784+1147C>A
NM_001407986.1:c.784+1147C>A
NM_001407990.1:c.787+1147C>A
NM_001407991.1:c.784+1147C>A
NM_001407992.1:c.784+1147C>A
NM_001407993.1:c.787+1147C>A
NM_001408392.1:c.784+1147C>A
NM_001408396.1:c.784+1147C>A
NM_001408397.1:c.784+1147C>A
NM_001408398.1:c.784+1147C>A
NM_001408399.1:c.784+1147C>A
NM_001408400.1:c.784+1147C>A
NM_001408401.1:c.784+1147C>A
NM_001408402.1:c.784+1147C>A
NM_001408403.1:c.787+1147C>A
NM_001408404.1:c.787+1147C>A
NM_001408406.1:c.790+1144C>A
NM_001408407.1:c.784+1147C>A
NM_001408408.1:c.778+1147C>A
NM_001408409.1:c.709+1147C>A
NM_001408410.1:c.646+1147C>A
NM_001408411.1:c.709+1147C>A
NM_001408412.1:c.709+1147C>A
NM_001408413.1:c.706+1147C>A
NM_001408414.1:c.709+1147C>A
NM_001408415.1:c.709+1147C>A
NM_001408416.1:c.706+1147C>A
NM_001408418.1:c.670+2249C>A
NM_001408419.1:c.670+2249C>A
NM_001408420.1:c.670+2249C>A
NM_001408421.1:c.667+2249C>A
NM_001408422.1:c.670+2249C>A
NM_001408423.1:c.670+2249C>A
NM_001408424.1:c.667+2249C>A
NM_001408425.1:c.664+1147C>A
NM_001408426.1:c.664+1147C>A
NM_001408427.1:c.664+1147C>A
NM_001408428.1:c.664+1147C>A
NM_001408429.1:c.664+1147C>A
NM_001408430.1:c.664+1147C>A
NM_001408431.1:c.667+2249C>A
NM_001408432.1:c.661+1147C>A
NM_001408433.1:c.661+1147C>A
NM_001408434.1:c.661+1147C>A
NM_001408435.1:c.661+1147C>A
NM_001408436.1:c.664+1147C>A
NM_001408437.1:c.664+1147C>A
NM_001408438.1:c.664+1147C>A
NM_001408439.1:c.664+1147C>A
NM_001408440.1:c.664+1147C>A
NM_001408441.1:c.664+1147C>A
NM_001408442.1:c.664+1147C>A
NM_001408443.1:c.664+1147C>A
NM_001408444.1:c.664+1147C>A
NM_001408445.1:c.661+1147C>A
NM_001408446.1:c.661+1147C>A
NM_001408447.1:c.661+1147C>A
NM_001408448.1:c.661+1147C>A
NM_001408450.1:c.661+1147C>A
NM_001408451.1:c.652+1147C>A
NM_001408452.1:c.646+1147C>A
NM_001408453.1:c.646+1147C>A
NM_001408454.1:c.646+1147C>A
NM_001408455.1:c.646+1147C>A
NM_001408456.1:c.646+1147C>A
NM_001408457.1:c.646+1147C>A
NM_001408458.1:c.646+1147C>A
NM_001408459.1:c.646+1147C>A
NM_001408460.1:c.646+1147C>A
NM_001408461.1:c.646+1147C>A
NM_001408462.1:c.643+1147C>A
NM_001408463.1:c.643+1147C>A
NM_001408464.1:c.643+1147C>A
NM_001408465.1:c.643+1147C>A
NM_001408466.1:c.646+1147C>A
NM_001408467.1:c.646+1147C>A
NM_001408468.1:c.643+1147C>A
NM_001408469.1:c.646+1147C>A
NM_001408470.1:c.643+1147C>A
NM_001408472.1:c.787+1147C>A
NM_001408473.1:c.784+1147C>A
NM_001408474.1:c.586+1147C>A
NM_001408475.1:c.583+1147C>A
NM_001408476.1:c.586+1147C>A
NM_001408478.1:c.577+1147C>A
NM_001408479.1:c.577+1147C>A
NM_001408480.1:c.577+1147C>A
NM_001408481.1:c.577+1147C>A
NM_001408482.1:c.577+1147C>A
NM_001408483.1:c.577+1147C>A
NM_001408484.1:c.577+1147C>A
NM_001408485.1:c.577+1147C>A
NM_001408489.1:c.577+1147C>A
NM_001408490.1:c.574+1147C>A
NM_001408491.1:c.574+1147C>A
NM_001408492.1:c.577+1147C>A
NM_001408493.1:c.574+1147C>A
NM_001408494.1:c.548-2565C>A
NM_001408495.1:c.545-2565C>A
NM_001408496.1:c.523+1147C>A
NM_001408497.1:c.523+1147C>A
NM_001408498.1:c.523+1147C>A
NM_001408499.1:c.523+1147C>A
NM_001408500.1:c.523+1147C>A
NM_001408501.1:c.523+1147C>A
NM_001408502.1:c.454+1147C>A
NM_001408503.1:c.520+1147C>A
NM_001408504.1:c.520+1147C>A
NM_001408505.1:c.520+1147C>A
NM_001408506.1:c.460+2249C>A
NM_001408507.1:c.460+2249C>A
NM_001408508.1:c.451+1147C>A
NM_001408509.1:c.451+1147C>A
NM_001408510.1:c.406+1147C>A
NM_001408511.1:c.404-2565C>A
NM_001408512.1:c.283+1147C>A
NM_001408513.1:c.577+1147C>A
NM_001408514.1:c.577+1147C>A
NM_007294.4:c.1934C>AMANE SELECT
NM_007297.4:c.1793C>A
NM_007298.4:c.787+1147C>A
NM_007299.4:c.787+1147C>A
NM_007300.4:c.1934C>A
NP_001394500.1:p.Ser574Tyr
NP_001394510.1:p.Ser645Tyr
NP_001394511.1:p.Ser645Tyr
NP_001394512.1:p.Ser645Tyr
NP_001394514.1:p.Ser645Tyr
NP_001394516.1:p.Ser644Tyr
NP_001394519.1:p.Ser644Tyr
NP_001394520.1:p.Ser644Tyr
NP_001394522.1:p.Ser645Tyr
NP_001394523.1:p.Ser645Tyr
NP_001394525.1:p.Ser645Tyr
NP_001394526.1:p.Ser645Tyr
NP_001394527.1:p.Ser645Tyr
NP_001394531.1:p.Ser645Tyr
NP_001394532.1:p.Ser645Tyr
NP_001394534.1:p.Ser645Tyr
NP_001394539.1:p.Ser644Tyr
NP_001394540.1:p.Ser644Tyr
NP_001394541.1:p.Ser644Tyr
NP_001394542.1:p.Ser644Tyr
NP_001394543.1:p.Ser644Tyr
NP_001394544.1:p.Ser644Tyr
NP_001394545.1:p.Ser645Tyr
NP_001394546.1:p.Ser645Tyr
NP_001394547.1:p.Ser645Tyr
NP_001394548.1:p.Ser645Tyr
NP_001394549.1:p.Ser645Tyr
NP_001394550.1:p.Ser645Tyr
NP_001394551.1:p.Ser645Tyr
NP_001394552.1:p.Ser645Tyr
NP_001394553.1:p.Ser645Tyr
NP_001394554.1:p.Ser645Tyr
NP_001394555.1:p.Ser645Tyr
NP_001394556.1:p.Ser644Tyr
NP_001394557.1:p.Ser644Tyr
NP_001394558.1:p.Ser644Tyr
NP_001394559.1:p.Ser644Tyr
NP_001394560.1:p.Ser644Tyr
NP_001394561.1:p.Ser644Tyr
NP_001394562.1:p.Ser644Tyr
NP_001394563.1:p.Ser644Tyr
NP_001394564.1:p.Ser644Tyr
NP_001394565.1:p.Ser644Tyr
NP_001394566.1:p.Ser644Tyr
NP_001394567.1:p.Ser644Tyr
NP_001394568.1:p.Ser645Tyr
NP_001394569.1:p.Ser645Tyr
NP_001394570.1:p.Ser645Tyr
NP_001394571.1:p.Ser645Tyr
NP_001394573.1:p.Ser644Tyr
NP_001394574.1:p.Ser644Tyr
NP_001394575.1:p.Ser642Tyr
NP_001394576.1:p.Ser642Tyr
NP_001394577.1:p.Ser604Tyr
NP_001394578.1:p.Ser603Tyr
NP_001394581.1:p.Ser645Tyr
NP_001394582.1:p.Ser619Tyr
NP_001394583.1:p.Ser619Tyr
NP_001394584.1:p.Ser619Tyr
NP_001394585.1:p.Ser619Tyr
NP_001394586.1:p.Ser619Tyr
NP_001394587.1:p.Ser619Tyr
NP_001394588.1:p.Ser618Tyr
NP_001394589.1:p.Ser618Tyr
NP_001394590.1:p.Ser618Tyr
NP_001394591.1:p.Ser618Tyr
NP_001394592.1:p.Ser619Tyr
NP_001394593.1:p.Ser604Tyr
NP_001394594.1:p.Ser604Tyr
NP_001394595.1:p.Ser604Tyr
NP_001394596.1:p.Ser604Tyr
NP_001394597.1:p.Ser604Tyr
NP_001394598.1:p.Ser604Tyr
NP_001394599.1:p.Ser603Tyr
NP_001394600.1:p.Ser603Tyr
NP_001394601.1:p.Ser603Tyr
NP_001394602.1:p.Ser603Tyr
NP_001394603.1:p.Ser604Tyr
NP_001394604.1:p.Ser604Tyr
NP_001394605.1:p.Ser604Tyr
NP_001394606.1:p.Ser604Tyr
NP_001394607.1:p.Ser604Tyr
NP_001394608.1:p.Ser604Tyr
NP_001394609.1:p.Ser604Tyr
NP_001394610.1:p.Ser604Tyr
NP_001394611.1:p.Ser604Tyr
NP_001394612.1:p.Ser604Tyr
NP_001394613.1:p.Ser645Tyr
NP_001394614.1:p.Ser603Tyr
NP_001394615.1:p.Ser603Tyr
NP_001394616.1:p.Ser603Tyr
NP_001394617.1:p.Ser603Tyr
NP_001394618.1:p.Ser603Tyr
NP_001394619.1:p.Ser603Tyr
NP_001394620.1:p.Ser603Tyr
NP_001394621.1:p.Ser598Tyr
NP_001394623.1:p.Ser598Tyr
NP_001394624.1:p.Ser598Tyr
NP_001394625.1:p.Ser598Tyr
NP_001394626.1:p.Ser598Tyr
NP_001394627.1:p.Ser598Tyr
NP_001394653.1:p.Ser598Tyr
NP_001394654.1:p.Ser598Tyr
NP_001394655.1:p.Ser598Tyr
NP_001394656.1:p.Ser598Tyr
NP_001394657.1:p.Ser598Tyr
NP_001394658.1:p.Ser598Tyr
NP_001394659.1:p.Ser598Tyr
NP_001394660.1:p.Ser598Tyr
NP_001394661.1:p.Ser598Tyr
NP_001394662.1:p.Ser598Tyr
NP_001394663.1:p.Ser598Tyr
NP_001394664.1:p.Ser598Tyr
NP_001394665.1:p.Ser598Tyr
NP_001394666.1:p.Ser598Tyr
NP_001394667.1:p.Ser598Tyr
NP_001394668.1:p.Ser598Tyr
NP_001394669.1:p.Ser597Tyr
NP_001394670.1:p.Ser597Tyr
NP_001394671.1:p.Ser597Tyr
NP_001394672.1:p.Ser597Tyr
NP_001394673.1:p.Ser597Tyr
NP_001394674.1:p.Ser597Tyr
NP_001394675.1:p.Ser597Tyr
NP_001394676.1:p.Ser597Tyr
NP_001394677.1:p.Ser597Tyr
NP_001394678.1:p.Ser597Tyr
NP_001394679.1:p.Ser598Tyr
NP_001394680.1:p.Ser598Tyr
NP_001394681.1:p.Ser598Tyr
NP_001394767.1:p.Ser597Tyr
NP_001394768.1:p.Ser597Tyr
NP_001394770.1:p.Ser597Tyr
NP_001394771.1:p.Ser597Tyr
NP_001394772.1:p.Ser597Tyr
NP_001394773.1:p.Ser597Tyr
NP_001394774.1:p.Ser597Tyr
NP_001394775.1:p.Ser597Tyr
NP_001394776.1:p.Ser597Tyr
NP_001394777.1:p.Ser597Tyr
NP_001394778.1:p.Ser597Tyr
NP_001394779.1:p.Ser598Tyr
NP_001394780.1:p.Ser598Tyr
NP_001394781.1:p.Ser598Tyr
NP_001394782.1:p.Ser574Tyr
NP_001394783.1:p.Ser645Tyr
NP_001394787.1:p.Ser645Tyr
NP_001394788.1:p.Ser645Tyr
NP_001394789.1:p.Ser644Tyr
NP_001394790.1:p.Ser644Tyr
NP_001394791.1:p.Ser578Tyr
NP_001394792.1:p.Ser604Tyr
NP_001394803.1:p.Ser577Tyr
NP_001394804.1:p.Ser577Tyr
NP_001394808.1:p.Ser575Tyr
NP_001394810.1:p.Ser575Tyr
NP_001394811.1:p.Ser575Tyr
NP_001394813.1:p.Ser575Tyr
NP_001394814.1:p.Ser575Tyr
NP_001394815.1:p.Ser575Tyr
NP_001394816.1:p.Ser575Tyr
NP_001394818.1:p.Ser575Tyr
NP_001394823.1:p.Ser574Tyr
NP_001394824.1:p.Ser574Tyr
NP_001394825.1:p.Ser574Tyr
NP_001394826.1:p.Ser574Tyr
NP_001394827.1:p.Ser574Tyr
NP_001394828.1:p.Ser574Tyr
NP_001394829.1:p.Ser575Tyr
NP_001394831.1:p.Ser575Tyr
NP_001394833.1:p.Ser575Tyr
NP_001394835.1:p.Ser575Tyr
NP_001394836.1:p.Ser575Tyr
NP_001394837.1:p.Ser575Tyr
NP_001394838.1:p.Ser575Tyr
NP_001394839.1:p.Ser575Tyr
NP_001394844.1:p.Ser574Tyr
NP_001394845.1:p.Ser574Tyr
NP_001394846.1:p.Ser574Tyr
NP_001394847.1:p.Ser574Tyr
NP_001394848.1:p.Ser604Tyr
NP_001394849.1:p.Ser557Tyr
NP_001394850.1:p.Ser557Tyr
NP_001394851.1:p.Ser557Tyr
NP_001394852.1:p.Ser557Tyr
NP_001394853.1:p.Ser557Tyr
NP_001394854.1:p.Ser557Tyr
NP_001394855.1:p.Ser557Tyr
NP_001394856.1:p.Ser557Tyr
NP_001394857.1:p.Ser557Tyr
NP_001394858.1:p.Ser557Tyr
NP_001394859.1:p.Ser556Tyr
NP_001394860.1:p.Ser556Tyr
NP_001394861.1:p.Ser556Tyr
NP_001394862.1:p.Ser557Tyr
NP_001394863.1:p.Ser556Tyr
NP_001394864.1:p.Ser557Tyr
NP_001394865.1:p.Ser556Tyr
NP_001394866.1:p.Ser604Tyr
NP_001394867.1:p.Ser604Tyr
NP_001394868.1:p.Ser604Tyr
NP_001394869.1:p.Ser603Tyr
NP_001394870.1:p.Ser603Tyr
NP_001394871.1:p.Ser598Tyr
NP_001394872.1:p.Ser597Tyr
NP_001394873.1:p.Ser598Tyr
NP_001394874.1:p.Ser598Tyr
NP_001394875.1:p.Ser534Tyr
NP_001394876.1:p.Ser534Tyr
NP_001394877.1:p.Ser534Tyr
NP_001394878.1:p.Ser534Tyr
NP_001394879.1:p.Ser534Tyr
NP_001394880.1:p.Ser534Tyr
NP_001394881.1:p.Ser534Tyr
NP_001394882.1:p.Ser534Tyr
NP_001394883.1:p.Ser533Tyr
NP_001394884.1:p.Ser533Tyr
NP_001394885.1:p.Ser533Tyr
NP_001394886.1:p.Ser534Tyr
NP_001394887.1:p.Ser533Tyr
NP_001394888.1:p.Ser518Tyr
NP_001394889.1:p.Ser518Tyr
NP_001394891.1:p.Ser517Tyr
NP_001394892.1:p.Ser518Tyr
NP_001394893.1:p.Ser597Tyr
NP_001394894.1:p.Ser477Tyr
NP_001394895.1:p.Ser349Tyr
NP_001394896.1:p.Ser349Tyr
NP_009225.1:p.Ser645Tyr
NP_009225.1:p.Ser645Tyr
NP_009228.2:p.Ser598Tyr
NP_009231.2:p.Ser645Tyr
LRG_292t1:c.1934C>A
LRG_292:g.124387C>A
LRG_292p1:p.Ser645Tyr
NC_000017.10:g.41245614G>T
NM_007294.3:c.1934C>A
NR_027676.1:n.2070C>A
U14680.1:n.2053C>A
p.S645Y

Protein change:

S349Y

Links:

dbSNP: rs80357129

NCBI 1000 Genomes Browser:

rs80357129

Molecular consequence:

NM_001407968.1:c.787+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.787+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.787+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.787+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.784+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.787+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.787+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.787+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.787+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.787+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.787+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.787+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.787+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.787+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.787+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.787+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.784+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.784+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.784+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.787+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.784+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.784+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.787+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.784+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.784+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.784+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.784+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.784+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.784+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.784+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.784+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.787+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.787+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.790+1144C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.784+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.778+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.709+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.646+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.709+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.709+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.706+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.709+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.709+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.706+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.670+2249C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.670+2249C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.670+2249C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.667+2249C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.670+2249C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.670+2249C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.667+2249C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.664+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.664+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.664+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.664+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.664+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.664+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.667+2249C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.661+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.661+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.661+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.661+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.664+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.664+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.664+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.664+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.664+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.664+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.664+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.664+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.664+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.661+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.661+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.661+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.661+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.661+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.652+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.646+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.646+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.646+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.646+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.646+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.646+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.646+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.646+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.646+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.646+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.643+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.643+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.643+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.643+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.646+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.646+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.643+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.646+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.643+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.787+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.784+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.586+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.583+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.586+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.577+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.577+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.577+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.577+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.577+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.577+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.577+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.577+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.577+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.574+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.574+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.577+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.574+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-2565C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-2565C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.523+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.523+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.523+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.523+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.523+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.523+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.454+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.520+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.520+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.520+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.460+2249C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.460+2249C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.451+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.451+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.406+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-2565C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.283+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.577+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.577+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.787+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.787+1147C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.1721C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.1931C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.1931C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.1931C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.1931C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.1931C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.1931C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.1931C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.1931C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.1931C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.1931C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.1931C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.1931C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.1931C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.1931C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.1931C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.1931C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.1931C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.1931C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.1931C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.1931C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.1931C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.1931C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.1931C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.1925C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.1925C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.1811C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.1808C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.1856C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.1856C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.1856C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.1856C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.1856C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.1856C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.1853C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.1853C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.1853C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.1853C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.1856C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.1811C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.1811C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.1811C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.1811C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.1811C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.1811C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.1808C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.1808C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.1808C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.1808C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.1811C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.1811C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.1811C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.1811C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.1811C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.1811C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.1811C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.1811C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.1811C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.1811C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.1808C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.1808C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.1808C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.1808C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.1808C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.1808C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.1808C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.1793C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.1793C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.1793C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.1793C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.1793C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.1793C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.1793C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.1793C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.1793C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.1793C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.1793C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.1793C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.1793C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.1793C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.1793C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.1793C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.1793C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.1793C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.1793C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.1793C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.1793C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.1793C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.1790C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.1790C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.1790C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.1790C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.1790C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.1790C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.1790C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.1790C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.1790C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.1790C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.1793C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.1793C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.1793C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.1790C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.1790C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.1790C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.1790C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.1790C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.1790C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.1790C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.1790C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.1790C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.1790C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.1790C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.1793C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.1793C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.1793C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.1721C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.1931C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.1931C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.1733C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.1811C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.1730C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.1730C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.1724C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.1724C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.1724C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.1724C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.1724C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.1724C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.1724C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.1724C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.1721C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.1721C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.1721C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.1721C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.1721C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.1721C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.1724C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.1724C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.1724C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.1724C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.1724C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.1724C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.1724C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.1724C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.1721C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.1721C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.1721C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.1721C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.1811C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.1670C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.1670C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.1670C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.1670C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.1670C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.1670C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.1670C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.1670C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.1670C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.1670C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.1667C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.1667C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.1667C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.1670C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.1667C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.1670C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.1667C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.1811C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.1811C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.1811C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.1808C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.1808C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.1793C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.1790C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.1793C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.1793C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.1601C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.1601C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.1601C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.1601C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.1601C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.1601C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.1601C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.1601C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.1598C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.1598C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.1598C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.1601C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.1598C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.1553C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.1553C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.1550C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.1553C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.1790C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.1430C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.1046C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.1046C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.1793C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.1934C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000184306	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 15, 2023)	germline	clinical testing	PubMed (8) [See all records that cite these PMIDs] 18273839, 19491284, 23593081, 24961674, 26848529, 27062684, 30254663, 30702160 Citation Link,
SCV000912045	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 15, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003849619	University of Washington Department of Laboratory Medicine, University of Washington	criteria provided, single submitter (Dines et al. (Genet Med. 2020))	Likely benign (Mar 23, 2023)	germline	curation	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000184306

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 15, 2023)

germline

clinical testing

PubMed (8)
[See all records that cite these PMIDs]

Citation Link,

SCV000912045

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 15, 2019)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV003849619

University of Washington Department of Laboratory Medicine, University of Washington

criteria provided, single submitter

(Dines et al. (Genet Med. 2020))

Likely benign
(Mar 23, 2023)

germline

curation

PubMed (1)
[See all records that cite this PMID]

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, curation

Citations

PubMed

Unclassified variants identified in BRCA1 exon 11: Consequences on splicing.

Anczuków O, Buisson M, Salles MJ, Triboulet S, Longy M, Lidereau R, Sinilnikova OM, Mazoyer S.

Genes Chromosomes Cancer. 2008 May;47(5):418-26. doi: 10.1002/gcc.20546.

PubMed [citation]

PMID:: 18273839

Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups.

Haffty BG, Choi DH, Goyal S, Silber A, Ranieri K, Matloff E, Lee MH, Nissenblatt M, Toppmeyer D, Moran MS.

Ann Oncol. 2009 Oct;20(10):1653-9. doi: 10.1093/annonc/mdp051. Epub 2009 Jun 2.

PubMed [citation]

PMID:: 19491284

See all PubMed Citations (10)

Details of each submission

From Ambry Genetics, SCV000184306.9

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

Description

The p.S645Y variant (also known as c.1934C>A), located in coding exon 9 of the BRCA1 gene, results from a C to A substitution at nucleotide position 1934. The serine at codon 645 is replaced by tyrosine, an amino acid with dissimilar properties. This alteration has been identified in individuals with personal and/or family history of breast and/or ovarian cancer (Haffty BG et al. Ann. Oncol., 2009 Oct;20:1653-9; Ou J et al. J Breast Cancer, 2013 Mar;16:50-4; Azzollini J et al. Eur J Intern Med, 2016 Jul;32:65-71; Kim YC et al. Oncotarget, 2016 Feb;7:9600-12; Zuntini R et al. Front Genet, 2018 Sep;9:378). Additionally, this alteration was not found to have a significant impact on splicing in a study utilizing a minigene assay (Anczuków O et al. Genes Chromosomes Cancer, 2008 May;47:418-26). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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 Color Diagnostics, LLC DBA Color Health, SCV000912045.3

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

Description

This missense variant replaces serine with tyrosine at codon 645 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has been observed in individuals affected with breast cancer (PMID: 19491284, 23593081, 25415331) and in hereditary breast and ovarian cancer families (PMID: 18273839, 27062684, 30702160). This variant has been identified in 3/250944 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#	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 University of Washington Department of Laboratory Medicine, University of Washington, SCV003849619.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (1)

Description

Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

#	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: Feb 25, 2025

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