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NM_007294.4(BRCA1):c.2042G>A (p.Ser681Asn) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 24, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004001465.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.2042G>A (p.Ser681Asn)]

NM_007294.4(BRCA1):c.2042G>A (p.Ser681Asn)

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.2042G>A (p.Ser681Asn)
HGVS:
  • NC_000017.11:g.43093489C>T
  • NG_005905.2:g.124495G>A
  • NM_001407571.1:c.1829G>A
  • NM_001407581.1:c.2042G>A
  • NM_001407582.1:c.2042G>A
  • NM_001407583.1:c.2042G>A
  • NM_001407585.1:c.2042G>A
  • NM_001407587.1:c.2039G>A
  • NM_001407590.1:c.2039G>A
  • NM_001407591.1:c.2039G>A
  • NM_001407593.1:c.2042G>A
  • NM_001407594.1:c.2042G>A
  • NM_001407596.1:c.2042G>A
  • NM_001407597.1:c.2042G>A
  • NM_001407598.1:c.2042G>A
  • NM_001407602.1:c.2042G>A
  • NM_001407603.1:c.2042G>A
  • NM_001407605.1:c.2042G>A
  • NM_001407610.1:c.2039G>A
  • NM_001407611.1:c.2039G>A
  • NM_001407612.1:c.2039G>A
  • NM_001407613.1:c.2039G>A
  • NM_001407614.1:c.2039G>A
  • NM_001407615.1:c.2039G>A
  • NM_001407616.1:c.2042G>A
  • NM_001407617.1:c.2042G>A
  • NM_001407618.1:c.2042G>A
  • NM_001407619.1:c.2042G>A
  • NM_001407620.1:c.2042G>A
  • NM_001407621.1:c.2042G>A
  • NM_001407622.1:c.2042G>A
  • NM_001407623.1:c.2042G>A
  • NM_001407624.1:c.2042G>A
  • NM_001407625.1:c.2042G>A
  • NM_001407626.1:c.2042G>A
  • NM_001407627.1:c.2039G>A
  • NM_001407628.1:c.2039G>A
  • NM_001407629.1:c.2039G>A
  • NM_001407630.1:c.2039G>A
  • NM_001407631.1:c.2039G>A
  • NM_001407632.1:c.2039G>A
  • NM_001407633.1:c.2039G>A
  • NM_001407634.1:c.2039G>A
  • NM_001407635.1:c.2039G>A
  • NM_001407636.1:c.2039G>A
  • NM_001407637.1:c.2039G>A
  • NM_001407638.1:c.2039G>A
  • NM_001407639.1:c.2042G>A
  • NM_001407640.1:c.2042G>A
  • NM_001407641.1:c.2042G>A
  • NM_001407642.1:c.2042G>A
  • NM_001407644.1:c.2039G>A
  • NM_001407645.1:c.2039G>A
  • NM_001407646.1:c.2033G>A
  • NM_001407647.1:c.2033G>A
  • NM_001407648.1:c.1919G>A
  • NM_001407649.1:c.1916G>A
  • NM_001407652.1:c.2042G>A
  • NM_001407653.1:c.1964G>A
  • NM_001407654.1:c.1964G>A
  • NM_001407655.1:c.1964G>A
  • NM_001407656.1:c.1964G>A
  • NM_001407657.1:c.1964G>A
  • NM_001407658.1:c.1964G>A
  • NM_001407659.1:c.1961G>A
  • NM_001407660.1:c.1961G>A
  • NM_001407661.1:c.1961G>A
  • NM_001407662.1:c.1961G>A
  • NM_001407663.1:c.1964G>A
  • NM_001407664.1:c.1919G>A
  • NM_001407665.1:c.1919G>A
  • NM_001407666.1:c.1919G>A
  • NM_001407667.1:c.1919G>A
  • NM_001407668.1:c.1919G>A
  • NM_001407669.1:c.1919G>A
  • NM_001407670.1:c.1916G>A
  • NM_001407671.1:c.1916G>A
  • NM_001407672.1:c.1916G>A
  • NM_001407673.1:c.1916G>A
  • NM_001407674.1:c.1919G>A
  • NM_001407675.1:c.1919G>A
  • NM_001407676.1:c.1919G>A
  • NM_001407677.1:c.1919G>A
  • NM_001407678.1:c.1919G>A
  • NM_001407679.1:c.1919G>A
  • NM_001407680.1:c.1919G>A
  • NM_001407681.1:c.1919G>A
  • NM_001407682.1:c.1919G>A
  • NM_001407683.1:c.1919G>A
  • NM_001407684.1:c.2042G>A
  • NM_001407685.1:c.1916G>A
  • NM_001407686.1:c.1916G>A
  • NM_001407687.1:c.1916G>A
  • NM_001407688.1:c.1916G>A
  • NM_001407689.1:c.1916G>A
  • NM_001407690.1:c.1916G>A
  • NM_001407691.1:c.1916G>A
  • NM_001407692.1:c.1901G>A
  • NM_001407694.1:c.1901G>A
  • NM_001407695.1:c.1901G>A
  • NM_001407696.1:c.1901G>A
  • NM_001407697.1:c.1901G>A
  • NM_001407698.1:c.1901G>A
  • NM_001407724.1:c.1901G>A
  • NM_001407725.1:c.1901G>A
  • NM_001407726.1:c.1901G>A
  • NM_001407727.1:c.1901G>A
  • NM_001407728.1:c.1901G>A
  • NM_001407729.1:c.1901G>A
  • NM_001407730.1:c.1901G>A
  • NM_001407731.1:c.1901G>A
  • NM_001407732.1:c.1901G>A
  • NM_001407733.1:c.1901G>A
  • NM_001407734.1:c.1901G>A
  • NM_001407735.1:c.1901G>A
  • NM_001407736.1:c.1901G>A
  • NM_001407737.1:c.1901G>A
  • NM_001407738.1:c.1901G>A
  • NM_001407739.1:c.1901G>A
  • NM_001407740.1:c.1898G>A
  • NM_001407741.1:c.1898G>A
  • NM_001407742.1:c.1898G>A
  • NM_001407743.1:c.1898G>A
  • NM_001407744.1:c.1898G>A
  • NM_001407745.1:c.1898G>A
  • NM_001407746.1:c.1898G>A
  • NM_001407747.1:c.1898G>A
  • NM_001407748.1:c.1898G>A
  • NM_001407749.1:c.1898G>A
  • NM_001407750.1:c.1901G>A
  • NM_001407751.1:c.1901G>A
  • NM_001407752.1:c.1901G>A
  • NM_001407838.1:c.1898G>A
  • NM_001407839.1:c.1898G>A
  • NM_001407841.1:c.1898G>A
  • NM_001407842.1:c.1898G>A
  • NM_001407843.1:c.1898G>A
  • NM_001407844.1:c.1898G>A
  • NM_001407845.1:c.1898G>A
  • NM_001407846.1:c.1898G>A
  • NM_001407847.1:c.1898G>A
  • NM_001407848.1:c.1898G>A
  • NM_001407849.1:c.1898G>A
  • NM_001407850.1:c.1901G>A
  • NM_001407851.1:c.1901G>A
  • NM_001407852.1:c.1901G>A
  • NM_001407853.1:c.1829G>A
  • NM_001407854.1:c.2042G>A
  • NM_001407858.1:c.2042G>A
  • NM_001407859.1:c.2042G>A
  • NM_001407860.1:c.2039G>A
  • NM_001407861.1:c.2039G>A
  • NM_001407862.1:c.1841G>A
  • NM_001407863.1:c.1919G>A
  • NM_001407874.1:c.1838G>A
  • NM_001407875.1:c.1838G>A
  • NM_001407879.1:c.1832G>A
  • NM_001407881.1:c.1832G>A
  • NM_001407882.1:c.1832G>A
  • NM_001407884.1:c.1832G>A
  • NM_001407885.1:c.1832G>A
  • NM_001407886.1:c.1832G>A
  • NM_001407887.1:c.1832G>A
  • NM_001407889.1:c.1832G>A
  • NM_001407894.1:c.1829G>A
  • NM_001407895.1:c.1829G>A
  • NM_001407896.1:c.1829G>A
  • NM_001407897.1:c.1829G>A
  • NM_001407898.1:c.1829G>A
  • NM_001407899.1:c.1829G>A
  • NM_001407900.1:c.1832G>A
  • NM_001407902.1:c.1832G>A
  • NM_001407904.1:c.1832G>A
  • NM_001407906.1:c.1832G>A
  • NM_001407907.1:c.1832G>A
  • NM_001407908.1:c.1832G>A
  • NM_001407909.1:c.1832G>A
  • NM_001407910.1:c.1832G>A
  • NM_001407915.1:c.1829G>A
  • NM_001407916.1:c.1829G>A
  • NM_001407917.1:c.1829G>A
  • NM_001407918.1:c.1829G>A
  • NM_001407919.1:c.1919G>A
  • NM_001407920.1:c.1778G>A
  • NM_001407921.1:c.1778G>A
  • NM_001407922.1:c.1778G>A
  • NM_001407923.1:c.1778G>A
  • NM_001407924.1:c.1778G>A
  • NM_001407925.1:c.1778G>A
  • NM_001407926.1:c.1778G>A
  • NM_001407927.1:c.1778G>A
  • NM_001407928.1:c.1778G>A
  • NM_001407929.1:c.1778G>A
  • NM_001407930.1:c.1775G>A
  • NM_001407931.1:c.1775G>A
  • NM_001407932.1:c.1775G>A
  • NM_001407933.1:c.1778G>A
  • NM_001407934.1:c.1775G>A
  • NM_001407935.1:c.1778G>A
  • NM_001407936.1:c.1775G>A
  • NM_001407937.1:c.1919G>A
  • NM_001407938.1:c.1919G>A
  • NM_001407939.1:c.1919G>A
  • NM_001407940.1:c.1916G>A
  • NM_001407941.1:c.1916G>A
  • NM_001407942.1:c.1901G>A
  • NM_001407943.1:c.1898G>A
  • NM_001407944.1:c.1901G>A
  • NM_001407945.1:c.1901G>A
  • NM_001407946.1:c.1709G>A
  • NM_001407947.1:c.1709G>A
  • NM_001407948.1:c.1709G>A
  • NM_001407949.1:c.1709G>A
  • NM_001407950.1:c.1709G>A
  • NM_001407951.1:c.1709G>A
  • NM_001407952.1:c.1709G>A
  • NM_001407953.1:c.1709G>A
  • NM_001407954.1:c.1706G>A
  • NM_001407955.1:c.1706G>A
  • NM_001407956.1:c.1706G>A
  • NM_001407957.1:c.1709G>A
  • NM_001407958.1:c.1706G>A
  • NM_001407959.1:c.1661G>A
  • NM_001407960.1:c.1661G>A
  • NM_001407962.1:c.1658G>A
  • NM_001407963.1:c.1661G>A
  • NM_001407964.1:c.1898G>A
  • NM_001407965.1:c.1538G>A
  • NM_001407966.1:c.1154G>A
  • NM_001407967.1:c.1154G>A
  • NM_001407968.1:c.787+1255G>A
  • NM_001407969.1:c.787+1255G>A
  • NM_001407970.1:c.787+1255G>A
  • NM_001407971.1:c.787+1255G>A
  • NM_001407972.1:c.784+1255G>A
  • NM_001407973.1:c.787+1255G>A
  • NM_001407974.1:c.787+1255G>A
  • NM_001407975.1:c.787+1255G>A
  • NM_001407976.1:c.787+1255G>A
  • NM_001407977.1:c.787+1255G>A
  • NM_001407978.1:c.787+1255G>A
  • NM_001407979.1:c.787+1255G>A
  • NM_001407980.1:c.787+1255G>A
  • NM_001407981.1:c.787+1255G>A
  • NM_001407982.1:c.787+1255G>A
  • NM_001407983.1:c.787+1255G>A
  • NM_001407984.1:c.784+1255G>A
  • NM_001407985.1:c.784+1255G>A
  • NM_001407986.1:c.784+1255G>A
  • NM_001407990.1:c.787+1255G>A
  • NM_001407991.1:c.784+1255G>A
  • NM_001407992.1:c.784+1255G>A
  • NM_001407993.1:c.787+1255G>A
  • NM_001408392.1:c.784+1255G>A
  • NM_001408396.1:c.784+1255G>A
  • NM_001408397.1:c.784+1255G>A
  • NM_001408398.1:c.784+1255G>A
  • NM_001408399.1:c.784+1255G>A
  • NM_001408400.1:c.784+1255G>A
  • NM_001408401.1:c.784+1255G>A
  • NM_001408402.1:c.784+1255G>A
  • NM_001408403.1:c.787+1255G>A
  • NM_001408404.1:c.787+1255G>A
  • NM_001408406.1:c.790+1252G>A
  • NM_001408407.1:c.784+1255G>A
  • NM_001408408.1:c.778+1255G>A
  • NM_001408409.1:c.709+1255G>A
  • NM_001408410.1:c.646+1255G>A
  • NM_001408411.1:c.709+1255G>A
  • NM_001408412.1:c.709+1255G>A
  • NM_001408413.1:c.706+1255G>A
  • NM_001408414.1:c.709+1255G>A
  • NM_001408415.1:c.709+1255G>A
  • NM_001408416.1:c.706+1255G>A
  • NM_001408418.1:c.670+2357G>A
  • NM_001408419.1:c.670+2357G>A
  • NM_001408420.1:c.670+2357G>A
  • NM_001408421.1:c.667+2357G>A
  • NM_001408422.1:c.670+2357G>A
  • NM_001408423.1:c.670+2357G>A
  • NM_001408424.1:c.667+2357G>A
  • NM_001408425.1:c.664+1255G>A
  • NM_001408426.1:c.664+1255G>A
  • NM_001408427.1:c.664+1255G>A
  • NM_001408428.1:c.664+1255G>A
  • NM_001408429.1:c.664+1255G>A
  • NM_001408430.1:c.664+1255G>A
  • NM_001408431.1:c.667+2357G>A
  • NM_001408432.1:c.661+1255G>A
  • NM_001408433.1:c.661+1255G>A
  • NM_001408434.1:c.661+1255G>A
  • NM_001408435.1:c.661+1255G>A
  • NM_001408436.1:c.664+1255G>A
  • NM_001408437.1:c.664+1255G>A
  • NM_001408438.1:c.664+1255G>A
  • NM_001408439.1:c.664+1255G>A
  • NM_001408440.1:c.664+1255G>A
  • NM_001408441.1:c.664+1255G>A
  • NM_001408442.1:c.664+1255G>A
  • NM_001408443.1:c.664+1255G>A
  • NM_001408444.1:c.664+1255G>A
  • NM_001408445.1:c.661+1255G>A
  • NM_001408446.1:c.661+1255G>A
  • NM_001408447.1:c.661+1255G>A
  • NM_001408448.1:c.661+1255G>A
  • NM_001408450.1:c.661+1255G>A
  • NM_001408451.1:c.652+1255G>A
  • NM_001408452.1:c.646+1255G>A
  • NM_001408453.1:c.646+1255G>A
  • NM_001408454.1:c.646+1255G>A
  • NM_001408455.1:c.646+1255G>A
  • NM_001408456.1:c.646+1255G>A
  • NM_001408457.1:c.646+1255G>A
  • NM_001408458.1:c.646+1255G>A
  • NM_001408459.1:c.646+1255G>A
  • NM_001408460.1:c.646+1255G>A
  • NM_001408461.1:c.646+1255G>A
  • NM_001408462.1:c.643+1255G>A
  • NM_001408463.1:c.643+1255G>A
  • NM_001408464.1:c.643+1255G>A
  • NM_001408465.1:c.643+1255G>A
  • NM_001408466.1:c.646+1255G>A
  • NM_001408467.1:c.646+1255G>A
  • NM_001408468.1:c.643+1255G>A
  • NM_001408469.1:c.646+1255G>A
  • NM_001408470.1:c.643+1255G>A
  • NM_001408472.1:c.787+1255G>A
  • NM_001408473.1:c.784+1255G>A
  • NM_001408474.1:c.586+1255G>A
  • NM_001408475.1:c.583+1255G>A
  • NM_001408476.1:c.586+1255G>A
  • NM_001408478.1:c.577+1255G>A
  • NM_001408479.1:c.577+1255G>A
  • NM_001408480.1:c.577+1255G>A
  • NM_001408481.1:c.577+1255G>A
  • NM_001408482.1:c.577+1255G>A
  • NM_001408483.1:c.577+1255G>A
  • NM_001408484.1:c.577+1255G>A
  • NM_001408485.1:c.577+1255G>A
  • NM_001408489.1:c.577+1255G>A
  • NM_001408490.1:c.574+1255G>A
  • NM_001408491.1:c.574+1255G>A
  • NM_001408492.1:c.577+1255G>A
  • NM_001408493.1:c.574+1255G>A
  • NM_001408494.1:c.548-2457G>A
  • NM_001408495.1:c.545-2457G>A
  • NM_001408496.1:c.523+1255G>A
  • NM_001408497.1:c.523+1255G>A
  • NM_001408498.1:c.523+1255G>A
  • NM_001408499.1:c.523+1255G>A
  • NM_001408500.1:c.523+1255G>A
  • NM_001408501.1:c.523+1255G>A
  • NM_001408502.1:c.454+1255G>A
  • NM_001408503.1:c.520+1255G>A
  • NM_001408504.1:c.520+1255G>A
  • NM_001408505.1:c.520+1255G>A
  • NM_001408506.1:c.460+2357G>A
  • NM_001408507.1:c.460+2357G>A
  • NM_001408508.1:c.451+1255G>A
  • NM_001408509.1:c.451+1255G>A
  • NM_001408510.1:c.406+1255G>A
  • NM_001408511.1:c.404-2457G>A
  • NM_001408512.1:c.283+1255G>A
  • NM_001408513.1:c.577+1255G>A
  • NM_001408514.1:c.577+1255G>A
  • NM_007294.4:c.2042G>AMANE SELECT
  • NM_007297.4:c.1901G>A
  • NM_007298.4:c.787+1255G>A
  • NM_007299.4:c.787+1255G>A
  • NM_007300.4:c.2042G>A
  • NP_001394500.1:p.Ser610Asn
  • NP_001394510.1:p.Ser681Asn
  • NP_001394511.1:p.Ser681Asn
  • NP_001394512.1:p.Ser681Asn
  • NP_001394514.1:p.Ser681Asn
  • NP_001394516.1:p.Ser680Asn
  • NP_001394519.1:p.Ser680Asn
  • NP_001394520.1:p.Ser680Asn
  • NP_001394522.1:p.Ser681Asn
  • NP_001394523.1:p.Ser681Asn
  • NP_001394525.1:p.Ser681Asn
  • NP_001394526.1:p.Ser681Asn
  • NP_001394527.1:p.Ser681Asn
  • NP_001394531.1:p.Ser681Asn
  • NP_001394532.1:p.Ser681Asn
  • NP_001394534.1:p.Ser681Asn
  • NP_001394539.1:p.Ser680Asn
  • NP_001394540.1:p.Ser680Asn
  • NP_001394541.1:p.Ser680Asn
  • NP_001394542.1:p.Ser680Asn
  • NP_001394543.1:p.Ser680Asn
  • NP_001394544.1:p.Ser680Asn
  • NP_001394545.1:p.Ser681Asn
  • NP_001394546.1:p.Ser681Asn
  • NP_001394547.1:p.Ser681Asn
  • NP_001394548.1:p.Ser681Asn
  • NP_001394549.1:p.Ser681Asn
  • NP_001394550.1:p.Ser681Asn
  • NP_001394551.1:p.Ser681Asn
  • NP_001394552.1:p.Ser681Asn
  • NP_001394553.1:p.Ser681Asn
  • NP_001394554.1:p.Ser681Asn
  • NP_001394555.1:p.Ser681Asn
  • NP_001394556.1:p.Ser680Asn
  • NP_001394557.1:p.Ser680Asn
  • NP_001394558.1:p.Ser680Asn
  • NP_001394559.1:p.Ser680Asn
  • NP_001394560.1:p.Ser680Asn
  • NP_001394561.1:p.Ser680Asn
  • NP_001394562.1:p.Ser680Asn
  • NP_001394563.1:p.Ser680Asn
  • NP_001394564.1:p.Ser680Asn
  • NP_001394565.1:p.Ser680Asn
  • NP_001394566.1:p.Ser680Asn
  • NP_001394567.1:p.Ser680Asn
  • NP_001394568.1:p.Ser681Asn
  • NP_001394569.1:p.Ser681Asn
  • NP_001394570.1:p.Ser681Asn
  • NP_001394571.1:p.Ser681Asn
  • NP_001394573.1:p.Ser680Asn
  • NP_001394574.1:p.Ser680Asn
  • NP_001394575.1:p.Ser678Asn
  • NP_001394576.1:p.Ser678Asn
  • NP_001394577.1:p.Ser640Asn
  • NP_001394578.1:p.Ser639Asn
  • NP_001394581.1:p.Ser681Asn
  • NP_001394582.1:p.Ser655Asn
  • NP_001394583.1:p.Ser655Asn
  • NP_001394584.1:p.Ser655Asn
  • NP_001394585.1:p.Ser655Asn
  • NP_001394586.1:p.Ser655Asn
  • NP_001394587.1:p.Ser655Asn
  • NP_001394588.1:p.Ser654Asn
  • NP_001394589.1:p.Ser654Asn
  • NP_001394590.1:p.Ser654Asn
  • NP_001394591.1:p.Ser654Asn
  • NP_001394592.1:p.Ser655Asn
  • NP_001394593.1:p.Ser640Asn
  • NP_001394594.1:p.Ser640Asn
  • NP_001394595.1:p.Ser640Asn
  • NP_001394596.1:p.Ser640Asn
  • NP_001394597.1:p.Ser640Asn
  • NP_001394598.1:p.Ser640Asn
  • NP_001394599.1:p.Ser639Asn
  • NP_001394600.1:p.Ser639Asn
  • NP_001394601.1:p.Ser639Asn
  • NP_001394602.1:p.Ser639Asn
  • NP_001394603.1:p.Ser640Asn
  • NP_001394604.1:p.Ser640Asn
  • NP_001394605.1:p.Ser640Asn
  • NP_001394606.1:p.Ser640Asn
  • NP_001394607.1:p.Ser640Asn
  • NP_001394608.1:p.Ser640Asn
  • NP_001394609.1:p.Ser640Asn
  • NP_001394610.1:p.Ser640Asn
  • NP_001394611.1:p.Ser640Asn
  • NP_001394612.1:p.Ser640Asn
  • NP_001394613.1:p.Ser681Asn
  • NP_001394614.1:p.Ser639Asn
  • NP_001394615.1:p.Ser639Asn
  • NP_001394616.1:p.Ser639Asn
  • NP_001394617.1:p.Ser639Asn
  • NP_001394618.1:p.Ser639Asn
  • NP_001394619.1:p.Ser639Asn
  • NP_001394620.1:p.Ser639Asn
  • NP_001394621.1:p.Ser634Asn
  • NP_001394623.1:p.Ser634Asn
  • NP_001394624.1:p.Ser634Asn
  • NP_001394625.1:p.Ser634Asn
  • NP_001394626.1:p.Ser634Asn
  • NP_001394627.1:p.Ser634Asn
  • NP_001394653.1:p.Ser634Asn
  • NP_001394654.1:p.Ser634Asn
  • NP_001394655.1:p.Ser634Asn
  • NP_001394656.1:p.Ser634Asn
  • NP_001394657.1:p.Ser634Asn
  • NP_001394658.1:p.Ser634Asn
  • NP_001394659.1:p.Ser634Asn
  • NP_001394660.1:p.Ser634Asn
  • NP_001394661.1:p.Ser634Asn
  • NP_001394662.1:p.Ser634Asn
  • NP_001394663.1:p.Ser634Asn
  • NP_001394664.1:p.Ser634Asn
  • NP_001394665.1:p.Ser634Asn
  • NP_001394666.1:p.Ser634Asn
  • NP_001394667.1:p.Ser634Asn
  • NP_001394668.1:p.Ser634Asn
  • NP_001394669.1:p.Ser633Asn
  • NP_001394670.1:p.Ser633Asn
  • NP_001394671.1:p.Ser633Asn
  • NP_001394672.1:p.Ser633Asn
  • NP_001394673.1:p.Ser633Asn
  • NP_001394674.1:p.Ser633Asn
  • NP_001394675.1:p.Ser633Asn
  • NP_001394676.1:p.Ser633Asn
  • NP_001394677.1:p.Ser633Asn
  • NP_001394678.1:p.Ser633Asn
  • NP_001394679.1:p.Ser634Asn
  • NP_001394680.1:p.Ser634Asn
  • NP_001394681.1:p.Ser634Asn
  • NP_001394767.1:p.Ser633Asn
  • NP_001394768.1:p.Ser633Asn
  • NP_001394770.1:p.Ser633Asn
  • NP_001394771.1:p.Ser633Asn
  • NP_001394772.1:p.Ser633Asn
  • NP_001394773.1:p.Ser633Asn
  • NP_001394774.1:p.Ser633Asn
  • NP_001394775.1:p.Ser633Asn
  • NP_001394776.1:p.Ser633Asn
  • NP_001394777.1:p.Ser633Asn
  • NP_001394778.1:p.Ser633Asn
  • NP_001394779.1:p.Ser634Asn
  • NP_001394780.1:p.Ser634Asn
  • NP_001394781.1:p.Ser634Asn
  • NP_001394782.1:p.Ser610Asn
  • NP_001394783.1:p.Ser681Asn
  • NP_001394787.1:p.Ser681Asn
  • NP_001394788.1:p.Ser681Asn
  • NP_001394789.1:p.Ser680Asn
  • NP_001394790.1:p.Ser680Asn
  • NP_001394791.1:p.Ser614Asn
  • NP_001394792.1:p.Ser640Asn
  • NP_001394803.1:p.Ser613Asn
  • NP_001394804.1:p.Ser613Asn
  • NP_001394808.1:p.Ser611Asn
  • NP_001394810.1:p.Ser611Asn
  • NP_001394811.1:p.Ser611Asn
  • NP_001394813.1:p.Ser611Asn
  • NP_001394814.1:p.Ser611Asn
  • NP_001394815.1:p.Ser611Asn
  • NP_001394816.1:p.Ser611Asn
  • NP_001394818.1:p.Ser611Asn
  • NP_001394823.1:p.Ser610Asn
  • NP_001394824.1:p.Ser610Asn
  • NP_001394825.1:p.Ser610Asn
  • NP_001394826.1:p.Ser610Asn
  • NP_001394827.1:p.Ser610Asn
  • NP_001394828.1:p.Ser610Asn
  • NP_001394829.1:p.Ser611Asn
  • NP_001394831.1:p.Ser611Asn
  • NP_001394833.1:p.Ser611Asn
  • NP_001394835.1:p.Ser611Asn
  • NP_001394836.1:p.Ser611Asn
  • NP_001394837.1:p.Ser611Asn
  • NP_001394838.1:p.Ser611Asn
  • NP_001394839.1:p.Ser611Asn
  • NP_001394844.1:p.Ser610Asn
  • NP_001394845.1:p.Ser610Asn
  • NP_001394846.1:p.Ser610Asn
  • NP_001394847.1:p.Ser610Asn
  • NP_001394848.1:p.Ser640Asn
  • NP_001394849.1:p.Ser593Asn
  • NP_001394850.1:p.Ser593Asn
  • NP_001394851.1:p.Ser593Asn
  • NP_001394852.1:p.Ser593Asn
  • NP_001394853.1:p.Ser593Asn
  • NP_001394854.1:p.Ser593Asn
  • NP_001394855.1:p.Ser593Asn
  • NP_001394856.1:p.Ser593Asn
  • NP_001394857.1:p.Ser593Asn
  • NP_001394858.1:p.Ser593Asn
  • NP_001394859.1:p.Ser592Asn
  • NP_001394860.1:p.Ser592Asn
  • NP_001394861.1:p.Ser592Asn
  • NP_001394862.1:p.Ser593Asn
  • NP_001394863.1:p.Ser592Asn
  • NP_001394864.1:p.Ser593Asn
  • NP_001394865.1:p.Ser592Asn
  • NP_001394866.1:p.Ser640Asn
  • NP_001394867.1:p.Ser640Asn
  • NP_001394868.1:p.Ser640Asn
  • NP_001394869.1:p.Ser639Asn
  • NP_001394870.1:p.Ser639Asn
  • NP_001394871.1:p.Ser634Asn
  • NP_001394872.1:p.Ser633Asn
  • NP_001394873.1:p.Ser634Asn
  • NP_001394874.1:p.Ser634Asn
  • NP_001394875.1:p.Ser570Asn
  • NP_001394876.1:p.Ser570Asn
  • NP_001394877.1:p.Ser570Asn
  • NP_001394878.1:p.Ser570Asn
  • NP_001394879.1:p.Ser570Asn
  • NP_001394880.1:p.Ser570Asn
  • NP_001394881.1:p.Ser570Asn
  • NP_001394882.1:p.Ser570Asn
  • NP_001394883.1:p.Ser569Asn
  • NP_001394884.1:p.Ser569Asn
  • NP_001394885.1:p.Ser569Asn
  • NP_001394886.1:p.Ser570Asn
  • NP_001394887.1:p.Ser569Asn
  • NP_001394888.1:p.Ser554Asn
  • NP_001394889.1:p.Ser554Asn
  • NP_001394891.1:p.Ser553Asn
  • NP_001394892.1:p.Ser554Asn
  • NP_001394893.1:p.Ser633Asn
  • NP_001394894.1:p.Ser513Asn
  • NP_001394895.1:p.Ser385Asn
  • NP_001394896.1:p.Ser385Asn
  • NP_009225.1:p.Ser681Asn
  • NP_009225.1:p.Ser681Asn
  • NP_009228.2:p.Ser634Asn
  • NP_009231.2:p.Ser681Asn
  • LRG_292t1:c.2042G>A
  • LRG_292:g.124495G>A
  • LRG_292p1:p.Ser681Asn
  • NC_000017.10:g.41245506C>T
  • NM_007294.3:c.2042G>A
  • NR_027676.1:n.2178G>A
Protein change:
S385N
Links:
dbSNP: rs1452826319
NCBI 1000 Genomes Browser:
rs1452826319
Molecular consequence:
  • NM_001407968.1:c.787+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.787+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+1252G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.670+2357G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.670+2357G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.670+2357G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.667+2357G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.670+2357G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.670+2357G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.667+2357G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.667+2357G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-2457G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-2457G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.460+2357G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.460+2357G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-2457G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1255G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.1829G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.2039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.2039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.2039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.2039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.2039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.2039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.2039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.2039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.2039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.2039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.2039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.2039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.2039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.2039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.2039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.2039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.2039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.2039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.2039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.2039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.2039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.2039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.2039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.2033G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.2033G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.1919G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.1916G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.1964G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.1964G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.1964G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.1964G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.1964G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.1964G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.1961G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.1961G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.1961G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.1961G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.1964G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.1919G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.1919G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.1919G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.1919G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.1919G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.1919G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.1916G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.1916G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.1916G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.1916G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.1919G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.1919G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.1919G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.1919G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.1919G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.1919G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.1919G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.1919G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.1919G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.1919G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.1916G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.1916G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.1916G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.1916G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.1916G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.1916G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.1916G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.1901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.1901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.1901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.1901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.1901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.1901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.1901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.1901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.1901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.1901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.1901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.1901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.1901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.1901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.1901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.1901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.1901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.1901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.1901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.1901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.1901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.1901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.1898G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.1898G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.1898G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.1898G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.1898G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.1898G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.1898G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.1898G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.1898G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.1898G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.1901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.1901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.1901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.1898G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.1898G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.1898G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.1898G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.1898G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.1898G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.1898G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.1898G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.1898G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.1898G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.1898G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.1901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.1901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.1901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.1829G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.2039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.2039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.1841G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.1919G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.1838G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.1838G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.1832G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.1832G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.1832G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.1832G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.1832G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.1832G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.1832G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.1832G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.1829G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.1829G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.1829G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.1829G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.1829G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.1829G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.1832G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.1832G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.1832G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.1832G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.1832G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.1832G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.1832G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.1832G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.1829G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.1829G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.1829G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.1829G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.1919G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.1778G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.1778G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.1778G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.1778G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.1778G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.1778G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.1778G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.1778G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.1778G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.1778G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.1775G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.1775G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.1775G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.1778G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.1775G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.1778G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.1775G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.1919G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.1919G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.1919G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.1916G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.1916G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.1901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.1898G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.1901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.1901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.1709G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.1709G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.1709G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.1709G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.1709G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.1709G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.1709G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.1709G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.1706G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.1706G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.1706G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.1709G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.1706G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.1661G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.1661G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.1658G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.1661G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.1898G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.1538G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.1154G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.1154G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.1901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:
OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004818235All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain Significance
(Feb 24, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided108544not providedclinical testing

Citations

PubMed

Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

Breast Cancer Association Consortium., Dorling L, Carvalho S, Allen J, González-Neira A, Luccarini C, Wahlström C, Pooley KA, Parsons MT, Fortuno C, Wang Q, Bolla MK, Dennis J, Keeman R, Alonso MR, Álvarez N, Herraez B, Fernandez V, Núñez-Torres R, Osorio A, Valcich J, Li M, et al.

N Engl J Med. 2021 Feb 4;384(5):428-439. doi: 10.1056/NEJMoa1913948. Epub 2021 Jan 20.

PubMed [citation]
PMID:
33471991
PMCID:
PMC7611105

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From All of Us Research Program, National Institutes of Health, SCV004818235.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

This missense variant replaces serine with asparagine at codon 681 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been detected in a breast cancer case-control meta-analysis in 1/60466 cases and 2/53461 unaffected individuals (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA1_002608). This variant has been identified in 1/251312 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024