NM_007294.4(BRCA1):c.5592A>G (p.Ter1864Trp) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 10, 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:: RCV002006965.7

Allele description [Variation Report for NM_007294.4(BRCA1):c.5592A>G (p.Ter1864Trp)]

NM_007294.4(BRCA1):c.5592A>G (p.Ter1864Trp)

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.5592A>G (p.Ter1864Trp)

HGVS:

NC_000017.11:g.43045678T>C
NG_005905.2:g.172306A>G
NM_001407571.1:c.5379A>G
NM_001407581.1:c.5658A>G
NM_001407582.1:c.5658A>G
NM_001407583.1:c.5655A>G
NM_001407585.1:c.5655A>G
NM_001407587.1:c.5655A>G
NM_001407590.1:c.5652A>G
NM_001407591.1:c.5652A>G
NM_001407593.1:c.5592A>G
NM_001407594.1:c.5592A>G
NM_001407596.1:c.5592A>G
NM_001407597.1:c.5592A>G
NM_001407598.1:c.5592A>G
NM_001407602.1:c.5592A>G
NM_001407603.1:c.5592A>G
NM_001407605.1:c.5592A>G
NM_001407610.1:c.5589A>G
NM_001407611.1:c.5589A>G
NM_001407612.1:c.5589A>G
NM_001407613.1:c.5589A>G
NM_001407614.1:c.5589A>G
NM_001407615.1:c.5589A>G
NM_001407616.1:c.5589A>G
NM_001407617.1:c.5589A>G
NM_001407618.1:c.5589A>G
NM_001407619.1:c.5589A>G
NM_001407620.1:c.5589A>G
NM_001407621.1:c.5589A>G
NM_001407622.1:c.5589A>G
NM_001407623.1:c.5589A>G
NM_001407624.1:c.5589A>G
NM_001407625.1:c.5589A>G
NM_001407626.1:c.5589A>G
NM_001407627.1:c.5586A>G
NM_001407628.1:c.5586A>G
NM_001407629.1:c.5586A>G
NM_001407630.1:c.5586A>G
NM_001407631.1:c.5586A>G
NM_001407632.1:c.5586A>G
NM_001407633.1:c.5586A>G
NM_001407634.1:c.5586A>G
NM_001407635.1:c.5586A>G
NM_001407636.1:c.5586A>G
NM_001407637.1:c.5586A>G
NM_001407638.1:c.5586A>G
NM_001407639.1:c.5586A>G
NM_001407640.1:c.5586A>G
NM_001407641.1:c.5586A>G
NM_001407642.1:c.5586A>G
NM_001407644.1:c.5583A>G
NM_001407645.1:c.5583A>G
NM_001407646.1:c.5580A>G
NM_001407647.1:c.5577A>G
NM_001407648.1:c.5535A>G
NM_001407649.1:c.5532A>G
NM_001407652.1:c.5514A>G
NM_001407653.1:c.5514A>G
NM_001407654.1:c.5514A>G
NM_001407655.1:c.5514A>G
NM_001407656.1:c.5511A>G
NM_001407657.1:c.5511A>G
NM_001407658.1:c.5511A>G
NM_001407659.1:c.5508A>G
NM_001407660.1:c.5508A>G
NM_001407661.1:c.5508A>G
NM_001407662.1:c.5508A>G
NM_001407663.1:c.5508A>G
NM_001407664.1:c.5469A>G
NM_001407665.1:c.5469A>G
NM_001407666.1:c.5469A>G
NM_001407667.1:c.5469A>G
NM_001407668.1:c.5469A>G
NM_001407669.1:c.5469A>G
NM_001407670.1:c.5466A>G
NM_001407671.1:c.5466A>G
NM_001407672.1:c.5466A>G
NM_001407673.1:c.5466A>G
NM_001407674.1:c.5466A>G
NM_001407675.1:c.5466A>G
NM_001407676.1:c.5466A>G
NM_001407677.1:c.5466A>G
NM_001407678.1:c.5466A>G
NM_001407679.1:c.5466A>G
NM_001407680.1:c.5466A>G
NM_001407681.1:c.5463A>G
NM_001407682.1:c.5463A>G
NM_001407683.1:c.5463A>G
NM_001407684.1:c.5463A>G
NM_001407685.1:c.5463A>G
NM_001407686.1:c.5463A>G
NM_001407687.1:c.5463A>G
NM_001407688.1:c.5463A>G
NM_001407689.1:c.5463A>G
NM_001407690.1:c.5460A>G
NM_001407691.1:c.5460A>G
NM_001407692.1:c.5451A>G
NM_001407694.1:c.5451A>G
NM_001407695.1:c.5451A>G
NM_001407696.1:c.5451A>G
NM_001407697.1:c.5451A>G
NM_001407698.1:c.5451A>G
NM_001407724.1:c.5451A>G
NM_001407725.1:c.5451A>G
NM_001407726.1:c.5451A>G
NM_001407727.1:c.5451A>G
NM_001407728.1:c.5451A>G
NM_001407729.1:c.5451A>G
NM_001407730.1:c.5451A>G
NM_001407731.1:c.5451A>G
NM_001407732.1:c.5448A>G
NM_001407733.1:c.5448A>G
NM_001407734.1:c.5448A>G
NM_001407735.1:c.5448A>G
NM_001407736.1:c.5448A>G
NM_001407737.1:c.5448A>G
NM_001407738.1:c.5448A>G
NM_001407739.1:c.5448A>G
NM_001407740.1:c.5448A>G
NM_001407741.1:c.5448A>G
NM_001407742.1:c.5448A>G
NM_001407743.1:c.5448A>G
NM_001407744.1:c.5448A>G
NM_001407745.1:c.5448A>G
NM_001407746.1:c.5448A>G
NM_001407747.1:c.5448A>G
NM_001407748.1:c.5448A>G
NM_001407749.1:c.5448A>G
NM_001407750.1:c.5448A>G
NM_001407751.1:c.5448A>G
NM_001407752.1:c.5448A>G
NM_001407838.1:c.5445A>G
NM_001407839.1:c.5445A>G
NM_001407841.1:c.5445A>G
NM_001407842.1:c.5445A>G
NM_001407843.1:c.5445A>G
NM_001407844.1:c.5445A>G
NM_001407845.1:c.5445A>G
NM_001407846.1:c.5445A>G
NM_001407847.1:c.5445A>G
NM_001407848.1:c.5445A>G
NM_001407849.1:c.5445A>G
NM_001407850.1:c.5445A>G
NM_001407851.1:c.5445A>G
NM_001407852.1:c.5445A>G
NM_001407853.1:c.5445A>G
NM_001407854.1:c.*106A>G
NM_001407858.1:c.*106A>G
NM_001407859.1:c.*106A>G
NM_001407860.1:c.*106A>G
NM_001407861.1:c.*106A>G
NM_001407862.1:c.5391A>G
NM_001407863.1:c.5388A>G
NM_001407874.1:c.5385A>G
NM_001407875.1:c.5385A>G
NM_001407879.1:c.5382A>G
NM_001407881.1:c.5382A>G
NM_001407882.1:c.5382A>G
NM_001407884.1:c.5382A>G
NM_001407885.1:c.5382A>G
NM_001407886.1:c.5382A>G
NM_001407887.1:c.5382A>G
NM_001407889.1:c.5382A>G
NM_001407894.1:c.5379A>G
NM_001407895.1:c.5379A>G
NM_001407896.1:c.5379A>G
NM_001407897.1:c.5379A>G
NM_001407898.1:c.5379A>G
NM_001407899.1:c.5379A>G
NM_001407900.1:c.5379A>G
NM_001407902.1:c.5379A>G
NM_001407904.1:c.5379A>G
NM_001407906.1:c.5379A>G
NM_001407907.1:c.5379A>G
NM_001407908.1:c.5379A>G
NM_001407909.1:c.5379A>G
NM_001407910.1:c.5379A>G
NM_001407915.1:c.5376A>G
NM_001407916.1:c.5376A>G
NM_001407917.1:c.5376A>G
NM_001407918.1:c.5376A>G
NM_001407919.1:c.5340A>G
NM_001407920.1:c.5328A>G
NM_001407921.1:c.5328A>G
NM_001407922.1:c.5328A>G
NM_001407923.1:c.5328A>G
NM_001407924.1:c.5328A>G
NM_001407925.1:c.5328A>G
NM_001407926.1:c.5328A>G
NM_001407927.1:c.5325A>G
NM_001407928.1:c.5325A>G
NM_001407929.1:c.5325A>G
NM_001407930.1:c.5325A>G
NM_001407931.1:c.5325A>G
NM_001407932.1:c.5325A>G
NM_001407933.1:c.5325A>G
NM_001407934.1:c.5322A>G
NM_001407935.1:c.5322A>G
NM_001407936.1:c.5322A>G
NM_001407937.1:c.*106A>G
NM_001407938.1:c.*106A>G
NM_001407939.1:c.*106A>G
NM_001407940.1:c.*106A>G
NM_001407941.1:c.*106A>G
NM_001407942.1:c.*106A>G
NM_001407943.1:c.*106A>G
NM_001407944.1:c.*106A>G
NM_001407945.1:c.*106A>G
NM_001407946.1:c.5259A>G
NM_001407947.1:c.5259A>G
NM_001407948.1:c.5259A>G
NM_001407949.1:c.5259A>G
NM_001407950.1:c.5256A>G
NM_001407951.1:c.5256A>G
NM_001407952.1:c.5256A>G
NM_001407953.1:c.5256A>G
NM_001407954.1:c.5256A>G
NM_001407955.1:c.5256A>G
NM_001407956.1:c.5253A>G
NM_001407957.1:c.5253A>G
NM_001407958.1:c.5253A>G
NM_001407959.1:c.5211A>G
NM_001407960.1:c.5208A>G
NM_001407962.1:c.5208A>G
NM_001407963.1:c.5205A>G
NM_001407964.1:c.5130A>G
NM_001407965.1:c.5085A>G
NM_001407966.1:c.4704A>G
NM_001407967.1:c.4701A>G
NM_001407968.1:c.2988A>G
NM_001407969.1:c.2985A>G
NM_001407970.1:c.2349A>G
NM_001407971.1:c.2349A>G
NM_001407972.1:c.2346A>G
NM_001407973.1:c.2283A>G
NM_001407974.1:c.2283A>G
NM_001407975.1:c.2283A>G
NM_001407976.1:c.2283A>G
NM_001407977.1:c.2283A>G
NM_001407978.1:c.2283A>G
NM_001407979.1:c.2280A>G
NM_001407980.1:c.2280A>G
NM_001407981.1:c.2280A>G
NM_001407982.1:c.2280A>G
NM_001407983.1:c.2280A>G
NM_001407984.1:c.2280A>G
NM_001407985.1:c.2280A>G
NM_001407986.1:c.2280A>G
NM_001407990.1:c.2280A>G
NM_001407991.1:c.2280A>G
NM_001407992.1:c.2280A>G
NM_001407993.1:c.2280A>G
NM_001408392.1:c.2277A>G
NM_001408396.1:c.2277A>G
NM_001408397.1:c.2277A>G
NM_001408398.1:c.2277A>G
NM_001408399.1:c.2277A>G
NM_001408400.1:c.2277A>G
NM_001408401.1:c.2277A>G
NM_001408402.1:c.2277A>G
NM_001408403.1:c.2277A>G
NM_001408404.1:c.2277A>G
NM_001408406.1:c.2274A>G
NM_001408407.1:c.2274A>G
NM_001408408.1:c.2274A>G
NM_001408409.1:c.2271A>G
NM_001408410.1:c.2208A>G
NM_001408411.1:c.2205A>G
NM_001408412.1:c.2202A>G
NM_001408413.1:c.2202A>G
NM_001408414.1:c.2202A>G
NM_001408415.1:c.2202A>G
NM_001408416.1:c.2202A>G
NM_001408418.1:c.2166A>G
NM_001408419.1:c.2166A>G
NM_001408420.1:c.2166A>G
NM_001408421.1:c.2163A>G
NM_001408422.1:c.2163A>G
NM_001408423.1:c.2163A>G
NM_001408424.1:c.2163A>G
NM_001408425.1:c.2160A>G
NM_001408426.1:c.2160A>G
NM_001408427.1:c.2160A>G
NM_001408428.1:c.2160A>G
NM_001408429.1:c.2160A>G
NM_001408430.1:c.2160A>G
NM_001408431.1:c.2160A>G
NM_001408432.1:c.2157A>G
NM_001408433.1:c.2157A>G
NM_001408434.1:c.2157A>G
NM_001408435.1:c.2157A>G
NM_001408436.1:c.2157A>G
NM_001408437.1:c.2157A>G
NM_001408438.1:c.2157A>G
NM_001408439.1:c.2157A>G
NM_001408440.1:c.2157A>G
NM_001408441.1:c.2157A>G
NM_001408442.1:c.2157A>G
NM_001408443.1:c.2157A>G
NM_001408444.1:c.2157A>G
NM_001408445.1:c.2154A>G
NM_001408446.1:c.2154A>G
NM_001408447.1:c.2154A>G
NM_001408448.1:c.2154A>G
NM_001408450.1:c.2154A>G
NM_001408451.1:c.2148A>G
NM_001408452.1:c.2142A>G
NM_001408453.1:c.2142A>G
NM_001408454.1:c.2142A>G
NM_001408455.1:c.2142A>G
NM_001408456.1:c.2142A>G
NM_001408457.1:c.2142A>G
NM_001408458.1:c.2139A>G
NM_001408459.1:c.2139A>G
NM_001408460.1:c.2139A>G
NM_001408461.1:c.2139A>G
NM_001408462.1:c.2139A>G
NM_001408463.1:c.2139A>G
NM_001408464.1:c.2139A>G
NM_001408465.1:c.2139A>G
NM_001408466.1:c.2139A>G
NM_001408467.1:c.2139A>G
NM_001408468.1:c.2136A>G
NM_001408469.1:c.2136A>G
NM_001408470.1:c.2136A>G
NM_001408472.1:c.*106A>G
NM_001408473.1:c.*106A>G
NM_001408474.1:c.2082A>G
NM_001408475.1:c.2079A>G
NM_001408476.1:c.2079A>G
NM_001408478.1:c.2073A>G
NM_001408479.1:c.2073A>G
NM_001408480.1:c.2073A>G
NM_001408481.1:c.2070A>G
NM_001408482.1:c.2070A>G
NM_001408483.1:c.2070A>G
NM_001408484.1:c.2070A>G
NM_001408485.1:c.2070A>G
NM_001408489.1:c.2070A>G
NM_001408490.1:c.2070A>G
NM_001408491.1:c.2070A>G
NM_001408492.1:c.2067A>G
NM_001408493.1:c.2067A>G
NM_001408494.1:c.2043A>G
NM_001408495.1:c.2037A>G
NM_001408496.1:c.2019A>G
NM_001408497.1:c.2019A>G
NM_001408498.1:c.2019A>G
NM_001408499.1:c.2019A>G
NM_001408500.1:c.2019A>G
NM_001408501.1:c.2019A>G
NM_001408502.1:c.2016A>G
NM_001408503.1:c.2016A>G
NM_001408504.1:c.2016A>G
NM_001408505.1:c.2013A>G
NM_001408506.1:c.1956A>G
NM_001408507.1:c.1953A>G
NM_001408508.1:c.1944A>G
NM_001408509.1:c.1941A>G
NM_001408510.1:c.1902A>G
NM_001408511.1:c.1899A>G
NM_001408512.1:c.1779A>G
NM_001408513.1:c.1752A>G
NM_001408514.1:c.1356A>G
NM_007294.4:c.5592A>GMANE SELECT
NM_007297.4:c.5451A>G
NM_007298.4:c.2280A>G
NM_007299.4:c.*106A>G
NM_007300.4:c.5655A>G
NM_007304.2:c.2280A>G
NP_001394500.1:p.Ter1793Trp
NP_001394510.1:p.Ter1886Trp
NP_001394511.1:p.Ter1886Trp
NP_001394512.1:p.Ter1885Trp
NP_001394514.1:p.Ter1885Trp
NP_001394516.1:p.Ter1885Trp
NP_001394519.1:p.Ter1884Trp
NP_001394520.1:p.Ter1884Trp
NP_001394522.1:p.Ter1864Trp
NP_001394523.1:p.Ter1864Trp
NP_001394525.1:p.Ter1864Trp
NP_001394526.1:p.Ter1864Trp
NP_001394527.1:p.Ter1864Trp
NP_001394531.1:p.Ter1864Trp
NP_001394532.1:p.Ter1864Trp
NP_001394534.1:p.Ter1864Trp
NP_001394539.1:p.Ter1863Trp
NP_001394540.1:p.Ter1863Trp
NP_001394541.1:p.Ter1863Trp
NP_001394542.1:p.Ter1863Trp
NP_001394543.1:p.Ter1863Trp
NP_001394544.1:p.Ter1863Trp
NP_001394545.1:p.Ter1863Trp
NP_001394546.1:p.Ter1863Trp
NP_001394547.1:p.Ter1863Trp
NP_001394548.1:p.Ter1863Trp
NP_001394549.1:p.Ter1863Trp
NP_001394550.1:p.Ter1863Trp
NP_001394551.1:p.Ter1863Trp
NP_001394552.1:p.Ter1863Trp
NP_001394553.1:p.Ter1863Trp
NP_001394554.1:p.Ter1863Trp
NP_001394555.1:p.Ter1863Trp
NP_001394556.1:p.Ter1862Trp
NP_001394557.1:p.Ter1862Trp
NP_001394558.1:p.Ter1862Trp
NP_001394559.1:p.Ter1862Trp
NP_001394560.1:p.Ter1862Trp
NP_001394561.1:p.Ter1862Trp
NP_001394562.1:p.Ter1862Trp
NP_001394563.1:p.Ter1862Trp
NP_001394564.1:p.Ter1862Trp
NP_001394565.1:p.Ter1862Trp
NP_001394566.1:p.Ter1862Trp
NP_001394567.1:p.Ter1862Trp
NP_001394568.1:p.Ter1862Trp
NP_001394569.1:p.Ter1862Trp
NP_001394570.1:p.Ter1862Trp
NP_001394571.1:p.Ter1862Trp
NP_001394573.1:p.Ter1861Trp
NP_001394574.1:p.Ter1861Trp
NP_001394575.1:p.Ter1860Trp
NP_001394576.1:p.Ter1859Trp
NP_001394577.1:p.Ter1845Trp
NP_001394578.1:p.Ter1844Trp
NP_001394581.1:p.Ter1838Trp
NP_001394582.1:p.Ter1838Trp
NP_001394583.1:p.Ter1838Trp
NP_001394584.1:p.Ter1838Trp
NP_001394585.1:p.Ter1837Trp
NP_001394586.1:p.Ter1837Trp
NP_001394587.1:p.Ter1837Trp
NP_001394588.1:p.Ter1836Trp
NP_001394589.1:p.Ter1836Trp
NP_001394590.1:p.Ter1836Trp
NP_001394591.1:p.Ter1836Trp
NP_001394592.1:p.Ter1836Trp
NP_001394593.1:p.Ter1823Trp
NP_001394594.1:p.Ter1823Trp
NP_001394595.1:p.Ter1823Trp
NP_001394596.1:p.Ter1823Trp
NP_001394597.1:p.Ter1823Trp
NP_001394598.1:p.Ter1823Trp
NP_001394599.1:p.Ter1822Trp
NP_001394600.1:p.Ter1822Trp
NP_001394601.1:p.Ter1822Trp
NP_001394602.1:p.Ter1822Trp
NP_001394603.1:p.Ter1822Trp
NP_001394604.1:p.Ter1822Trp
NP_001394605.1:p.Ter1822Trp
NP_001394606.1:p.Ter1822Trp
NP_001394607.1:p.Ter1822Trp
NP_001394608.1:p.Ter1822Trp
NP_001394609.1:p.Ter1822Trp
NP_001394610.1:p.Ter1821Trp
NP_001394611.1:p.Ter1821Trp
NP_001394612.1:p.Ter1821Trp
NP_001394613.1:p.Ter1821Trp
NP_001394614.1:p.Ter1821Trp
NP_001394615.1:p.Ter1821Trp
NP_001394616.1:p.Ter1821Trp
NP_001394617.1:p.Ter1821Trp
NP_001394618.1:p.Ter1821Trp
NP_001394619.1:p.Ter1820Trp
NP_001394620.1:p.Ter1820Trp
NP_001394621.1:p.Ter1817Trp
NP_001394623.1:p.Ter1817Trp
NP_001394624.1:p.Ter1817Trp
NP_001394625.1:p.Ter1817Trp
NP_001394626.1:p.Ter1817Trp
NP_001394627.1:p.Ter1817Trp
NP_001394653.1:p.Ter1817Trp
NP_001394654.1:p.Ter1817Trp
NP_001394655.1:p.Ter1817Trp
NP_001394656.1:p.Ter1817Trp
NP_001394657.1:p.Ter1817Trp
NP_001394658.1:p.Ter1817Trp
NP_001394659.1:p.Ter1817Trp
NP_001394660.1:p.Ter1817Trp
NP_001394661.1:p.Ter1816Trp
NP_001394662.1:p.Ter1816Trp
NP_001394663.1:p.Ter1816Trp
NP_001394664.1:p.Ter1816Trp
NP_001394665.1:p.Ter1816Trp
NP_001394666.1:p.Ter1816Trp
NP_001394667.1:p.Ter1816Trp
NP_001394668.1:p.Ter1816Trp
NP_001394669.1:p.Ter1816Trp
NP_001394670.1:p.Ter1816Trp
NP_001394671.1:p.Ter1816Trp
NP_001394672.1:p.Ter1816Trp
NP_001394673.1:p.Ter1816Trp
NP_001394674.1:p.Ter1816Trp
NP_001394675.1:p.Ter1816Trp
NP_001394676.1:p.Ter1816Trp
NP_001394677.1:p.Ter1816Trp
NP_001394678.1:p.Ter1816Trp
NP_001394679.1:p.Ter1816Trp
NP_001394680.1:p.Ter1816Trp
NP_001394681.1:p.Ter1816Trp
NP_001394767.1:p.Ter1815Trp
NP_001394768.1:p.Ter1815Trp
NP_001394770.1:p.Ter1815Trp
NP_001394771.1:p.Ter1815Trp
NP_001394772.1:p.Ter1815Trp
NP_001394773.1:p.Ter1815Trp
NP_001394774.1:p.Ter1815Trp
NP_001394775.1:p.Ter1815Trp
NP_001394776.1:p.Ter1815Trp
NP_001394777.1:p.Ter1815Trp
NP_001394778.1:p.Ter1815Trp
NP_001394779.1:p.Ter1815Trp
NP_001394780.1:p.Ter1815Trp
NP_001394781.1:p.Ter1815Trp
NP_001394782.1:p.Ter1815Trp
NP_001394791.1:p.Ter1797Trp
NP_001394792.1:p.Ter1796Trp
NP_001394803.1:p.Ter1795Trp
NP_001394804.1:p.Ter1795Trp
NP_001394808.1:p.Ter1794Trp
NP_001394810.1:p.Ter1794Trp
NP_001394811.1:p.Ter1794Trp
NP_001394813.1:p.Ter1794Trp
NP_001394814.1:p.Ter1794Trp
NP_001394815.1:p.Ter1794Trp
NP_001394816.1:p.Ter1794Trp
NP_001394818.1:p.Ter1794Trp
NP_001394823.1:p.Ter1793Trp
NP_001394824.1:p.Ter1793Trp
NP_001394825.1:p.Ter1793Trp
NP_001394826.1:p.Ter1793Trp
NP_001394827.1:p.Ter1793Trp
NP_001394828.1:p.Ter1793Trp
NP_001394829.1:p.Ter1793Trp
NP_001394831.1:p.Ter1793Trp
NP_001394833.1:p.Ter1793Trp
NP_001394835.1:p.Ter1793Trp
NP_001394836.1:p.Ter1793Trp
NP_001394837.1:p.Ter1793Trp
NP_001394838.1:p.Ter1793Trp
NP_001394839.1:p.Ter1793Trp
NP_001394844.1:p.Ter1792Trp
NP_001394845.1:p.Ter1792Trp
NP_001394846.1:p.Ter1792Trp
NP_001394847.1:p.Ter1792Trp
NP_001394848.1:p.Ter1780Trp
NP_001394849.1:p.Ter1776Trp
NP_001394850.1:p.Ter1776Trp
NP_001394851.1:p.Ter1776Trp
NP_001394852.1:p.Ter1776Trp
NP_001394853.1:p.Ter1776Trp
NP_001394854.1:p.Ter1776Trp
NP_001394855.1:p.Ter1776Trp
NP_001394856.1:p.Ter1775Trp
NP_001394857.1:p.Ter1775Trp
NP_001394858.1:p.Ter1775Trp
NP_001394859.1:p.Ter1775Trp
NP_001394860.1:p.Ter1775Trp
NP_001394861.1:p.Ter1775Trp
NP_001394862.1:p.Ter1775Trp
NP_001394863.1:p.Ter1774Trp
NP_001394864.1:p.Ter1774Trp
NP_001394865.1:p.Ter1774Trp
NP_001394875.1:p.Ter1753Trp
NP_001394876.1:p.Ter1753Trp
NP_001394877.1:p.Ter1753Trp
NP_001394878.1:p.Ter1753Trp
NP_001394879.1:p.Ter1752Trp
NP_001394880.1:p.Ter1752Trp
NP_001394881.1:p.Ter1752Trp
NP_001394882.1:p.Ter1752Trp
NP_001394883.1:p.Ter1752Trp
NP_001394884.1:p.Ter1752Trp
NP_001394885.1:p.Ter1751Trp
NP_001394886.1:p.Ter1751Trp
NP_001394887.1:p.Ter1751Trp
NP_001394888.1:p.Ter1737Trp
NP_001394889.1:p.Ter1736Trp
NP_001394891.1:p.Ter1736Trp
NP_001394892.1:p.Ter1735Trp
NP_001394893.1:p.Ter1710Trp
NP_001394894.1:p.Ter1695Trp
NP_001394895.1:p.Ter1568Trp
NP_001394896.1:p.Ter1567Trp
NP_001394897.1:p.Ter996Trp
NP_001394898.1:p.Ter995Trp
NP_001394899.1:p.Ter783Trp
NP_001394900.1:p.Ter783Trp
NP_001394901.1:p.Ter782Trp
NP_001394902.1:p.Ter761Trp
NP_001394903.1:p.Ter761Trp
NP_001394904.1:p.Ter761Trp
NP_001394905.1:p.Ter761Trp
NP_001394906.1:p.Ter761Trp
NP_001394907.1:p.Ter761Trp
NP_001394908.1:p.Ter760Trp
NP_001394909.1:p.Ter760Trp
NP_001394910.1:p.Ter760Trp
NP_001394911.1:p.Ter760Trp
NP_001394912.1:p.Ter760Trp
NP_001394913.1:p.Ter760Trp
NP_001394914.1:p.Ter760Trp
NP_001394915.1:p.Ter760Trp
NP_001394919.1:p.Ter760Trp
NP_001394920.1:p.Ter760Trp
NP_001394921.1:p.Ter760Trp
NP_001394922.1:p.Ter760Trp
NP_001395321.1:p.Ter759Trp
NP_001395325.1:p.Ter759Trp
NP_001395326.1:p.Ter759Trp
NP_001395327.1:p.Ter759Trp
NP_001395328.1:p.Ter759Trp
NP_001395329.1:p.Ter759Trp
NP_001395330.1:p.Ter759Trp
NP_001395331.1:p.Ter759Trp
NP_001395332.1:p.Ter759Trp
NP_001395333.1:p.Ter759Trp
NP_001395335.1:p.Ter758Trp
NP_001395336.1:p.Ter758Trp
NP_001395337.1:p.Ter758Trp
NP_001395338.1:p.Ter757Trp
NP_001395339.1:p.Ter736Trp
NP_001395340.1:p.Ter735Trp
NP_001395341.1:p.Ter734Trp
NP_001395342.1:p.Ter734Trp
NP_001395343.1:p.Ter734Trp
NP_001395344.1:p.Ter734Trp
NP_001395345.1:p.Ter734Trp
NP_001395347.1:p.Ter722Trp
NP_001395348.1:p.Ter722Trp
NP_001395349.1:p.Ter722Trp
NP_001395350.1:p.Ter721Trp
NP_001395351.1:p.Ter721Trp
NP_001395352.1:p.Ter721Trp
NP_001395353.1:p.Ter721Trp
NP_001395354.1:p.Ter720Trp
NP_001395355.1:p.Ter720Trp
NP_001395356.1:p.Ter720Trp
NP_001395357.1:p.Ter720Trp
NP_001395358.1:p.Ter720Trp
NP_001395359.1:p.Ter720Trp
NP_001395360.1:p.Ter720Trp
NP_001395361.1:p.Ter719Trp
NP_001395362.1:p.Ter719Trp
NP_001395363.1:p.Ter719Trp
NP_001395364.1:p.Ter719Trp
NP_001395365.1:p.Ter719Trp
NP_001395366.1:p.Ter719Trp
NP_001395367.1:p.Ter719Trp
NP_001395368.1:p.Ter719Trp
NP_001395369.1:p.Ter719Trp
NP_001395370.1:p.Ter719Trp
NP_001395371.1:p.Ter719Trp
NP_001395372.1:p.Ter719Trp
NP_001395373.1:p.Ter719Trp
NP_001395374.1:p.Ter718Trp
NP_001395375.1:p.Ter718Trp
NP_001395376.1:p.Ter718Trp
NP_001395377.1:p.Ter718Trp
NP_001395379.1:p.Ter718Trp
NP_001395380.1:p.Ter716Trp
NP_001395381.1:p.Ter714Trp
NP_001395382.1:p.Ter714Trp
NP_001395383.1:p.Ter714Trp
NP_001395384.1:p.Ter714Trp
NP_001395385.1:p.Ter714Trp
NP_001395386.1:p.Ter714Trp
NP_001395387.1:p.Ter713Trp
NP_001395388.1:p.Ter713Trp
NP_001395389.1:p.Ter713Trp
NP_001395390.1:p.Ter713Trp
NP_001395391.1:p.Ter713Trp
NP_001395392.1:p.Ter713Trp
NP_001395393.1:p.Ter713Trp
NP_001395394.1:p.Ter713Trp
NP_001395395.1:p.Ter713Trp
NP_001395396.1:p.Ter713Trp
NP_001395397.1:p.Ter712Trp
NP_001395398.1:p.Ter712Trp
NP_001395399.1:p.Ter712Trp
NP_001395403.1:p.Ter694Trp
NP_001395404.1:p.Ter693Trp
NP_001395405.1:p.Ter693Trp
NP_001395407.1:p.Ter691Trp
NP_001395408.1:p.Ter691Trp
NP_001395409.1:p.Ter691Trp
NP_001395410.1:p.Ter690Trp
NP_001395411.1:p.Ter690Trp
NP_001395412.1:p.Ter690Trp
NP_001395413.1:p.Ter690Trp
NP_001395414.1:p.Ter690Trp
NP_001395418.1:p.Ter690Trp
NP_001395419.1:p.Ter690Trp
NP_001395420.1:p.Ter690Trp
NP_001395421.1:p.Ter689Trp
NP_001395422.1:p.Ter689Trp
NP_001395423.1:p.Ter681Trp
NP_001395424.1:p.Ter679Trp
NP_001395425.1:p.Ter673Trp
NP_001395426.1:p.Ter673Trp
NP_001395427.1:p.Ter673Trp
NP_001395428.1:p.Ter673Trp
NP_001395429.1:p.Ter673Trp
NP_001395430.1:p.Ter673Trp
NP_001395431.1:p.Ter672Trp
NP_001395432.1:p.Ter672Trp
NP_001395433.1:p.Ter672Trp
NP_001395434.1:p.Ter671Trp
NP_001395435.1:p.Ter652Trp
NP_001395436.1:p.Ter651Trp
NP_001395437.1:p.Ter648Trp
NP_001395438.1:p.Ter647Trp
NP_001395439.1:p.Ter634Trp
NP_001395440.1:p.Ter633Trp
NP_001395441.1:p.Ter593Trp
NP_001395442.1:p.Ter584Trp
NP_001395443.1:p.Ter452Trp
NP_009225.1:p.Ter1864Trp
NP_009225.1:p.Ter1864Trp
NP_009228.2:p.Ter1817Trp
NP_009229.2:p.Ter760Trp
NP_009229.2:p.Ter760Trp
NP_009231.2:p.Ter1885Trp
NP_009235.2:p.Ter760Trp
LRG_292t1:c.5592A>G
LRG_292:g.172306A>G
LRG_292p1:p.Ter1864Trp
NC_000017.10:g.41197695T>C
NM_007294.3:c.5592A>G
NM_007298.3:c.2280A>G
NR_027676.2:n.5769A>G

Links:

dbSNP: rs2152476968

NCBI 1000 Genomes Browser:

rs2152476968

Molecular consequence:

NM_007299.4:c.*106A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NR_027676.2:n.5769A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001407571.1:c.5379A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407581.1:c.5658A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407582.1:c.5658A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407583.1:c.5655A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407585.1:c.5655A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407587.1:c.5655A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407590.1:c.5652A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407591.1:c.5652A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407593.1:c.5592A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407594.1:c.5592A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407596.1:c.5592A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407597.1:c.5592A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407598.1:c.5592A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407602.1:c.5592A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407603.1:c.5592A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407605.1:c.5592A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407610.1:c.5589A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407611.1:c.5589A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407612.1:c.5589A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407613.1:c.5589A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407614.1:c.5589A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407615.1:c.5589A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407616.1:c.5589A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407617.1:c.5589A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407618.1:c.5589A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407619.1:c.5589A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407620.1:c.5589A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407621.1:c.5589A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407622.1:c.5589A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407623.1:c.5589A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407624.1:c.5589A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407625.1:c.5589A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407626.1:c.5589A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407627.1:c.5586A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407628.1:c.5586A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407629.1:c.5586A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407630.1:c.5586A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407631.1:c.5586A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407632.1:c.5586A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407633.1:c.5586A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407634.1:c.5586A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407635.1:c.5586A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407636.1:c.5586A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407637.1:c.5586A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407638.1:c.5586A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407639.1:c.5586A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407640.1:c.5586A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407641.1:c.5586A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407642.1:c.5586A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407644.1:c.5583A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407645.1:c.5583A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407646.1:c.5580A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407647.1:c.5577A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407648.1:c.5535A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407649.1:c.5532A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407652.1:c.5514A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407653.1:c.5514A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407654.1:c.5514A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407655.1:c.5514A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407656.1:c.5511A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407657.1:c.5511A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407658.1:c.5511A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407659.1:c.5508A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407660.1:c.5508A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407661.1:c.5508A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407662.1:c.5508A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407663.1:c.5508A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407664.1:c.5469A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407665.1:c.5469A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407666.1:c.5469A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407667.1:c.5469A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407668.1:c.5469A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407669.1:c.5469A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407670.1:c.5466A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407671.1:c.5466A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407672.1:c.5466A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407673.1:c.5466A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407674.1:c.5466A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407675.1:c.5466A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407676.1:c.5466A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407677.1:c.5466A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407678.1:c.5466A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407679.1:c.5466A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407680.1:c.5466A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407681.1:c.5463A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407682.1:c.5463A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407683.1:c.5463A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407684.1:c.5463A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407685.1:c.5463A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407686.1:c.5463A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407687.1:c.5463A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407688.1:c.5463A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407689.1:c.5463A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407690.1:c.5460A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407691.1:c.5460A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407692.1:c.5451A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407694.1:c.5451A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407695.1:c.5451A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407696.1:c.5451A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407697.1:c.5451A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407698.1:c.5451A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407724.1:c.5451A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407725.1:c.5451A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407726.1:c.5451A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407727.1:c.5451A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407728.1:c.5451A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407729.1:c.5451A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407730.1:c.5451A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407731.1:c.5451A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407732.1:c.5448A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407733.1:c.5448A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407734.1:c.5448A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407735.1:c.5448A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407736.1:c.5448A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407737.1:c.5448A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407738.1:c.5448A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407739.1:c.5448A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407740.1:c.5448A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407741.1:c.5448A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407742.1:c.5448A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407743.1:c.5448A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407744.1:c.5448A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407745.1:c.5448A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407746.1:c.5448A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407747.1:c.5448A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407748.1:c.5448A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407749.1:c.5448A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407750.1:c.5448A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407751.1:c.5448A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407752.1:c.5448A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407838.1:c.5445A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407839.1:c.5445A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407841.1:c.5445A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407842.1:c.5445A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407843.1:c.5445A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407844.1:c.5445A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407845.1:c.5445A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407846.1:c.5445A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407847.1:c.5445A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407848.1:c.5445A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407849.1:c.5445A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407850.1:c.5445A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407851.1:c.5445A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407852.1:c.5445A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407853.1:c.5445A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407862.1:c.5391A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407863.1:c.5388A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407874.1:c.5385A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407875.1:c.5385A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407879.1:c.5382A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407881.1:c.5382A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407882.1:c.5382A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407884.1:c.5382A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407885.1:c.5382A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407886.1:c.5382A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407887.1:c.5382A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407889.1:c.5382A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407894.1:c.5379A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407895.1:c.5379A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407896.1:c.5379A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407897.1:c.5379A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407898.1:c.5379A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407899.1:c.5379A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407900.1:c.5379A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407902.1:c.5379A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407904.1:c.5379A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407906.1:c.5379A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407907.1:c.5379A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407908.1:c.5379A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407909.1:c.5379A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407910.1:c.5379A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407915.1:c.5376A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407916.1:c.5376A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407917.1:c.5376A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407918.1:c.5376A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407919.1:c.5340A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407920.1:c.5328A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407921.1:c.5328A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407922.1:c.5328A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407923.1:c.5328A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407924.1:c.5328A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407925.1:c.5328A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407926.1:c.5328A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407927.1:c.5325A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407928.1:c.5325A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407929.1:c.5325A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407930.1:c.5325A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407931.1:c.5325A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407932.1:c.5325A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407933.1:c.5325A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407934.1:c.5322A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407935.1:c.5322A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407936.1:c.5322A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407946.1:c.5259A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407947.1:c.5259A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407948.1:c.5259A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407949.1:c.5259A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407950.1:c.5256A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407951.1:c.5256A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407952.1:c.5256A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407953.1:c.5256A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407954.1:c.5256A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407955.1:c.5256A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407956.1:c.5253A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407957.1:c.5253A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407958.1:c.5253A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407959.1:c.5211A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407960.1:c.5208A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407962.1:c.5208A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407963.1:c.5205A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407964.1:c.5130A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407965.1:c.5085A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407966.1:c.4704A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407967.1:c.4701A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407968.1:c.2988A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407969.1:c.2985A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407970.1:c.2349A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407971.1:c.2349A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407972.1:c.2346A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407973.1:c.2283A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407974.1:c.2283A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407975.1:c.2283A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407976.1:c.2283A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407977.1:c.2283A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407978.1:c.2283A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407979.1:c.2280A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407980.1:c.2280A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407981.1:c.2280A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407982.1:c.2280A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407983.1:c.2280A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407984.1:c.2280A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407985.1:c.2280A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407986.1:c.2280A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407990.1:c.2280A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407991.1:c.2280A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407992.1:c.2280A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001407993.1:c.2280A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408392.1:c.2277A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408396.1:c.2277A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408397.1:c.2277A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408398.1:c.2277A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408399.1:c.2277A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408400.1:c.2277A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408401.1:c.2277A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408402.1:c.2277A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408403.1:c.2277A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408404.1:c.2277A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408406.1:c.2274A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408407.1:c.2274A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408408.1:c.2274A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408409.1:c.2271A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408410.1:c.2208A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408411.1:c.2205A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408412.1:c.2202A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408413.1:c.2202A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408414.1:c.2202A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408415.1:c.2202A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408416.1:c.2202A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408418.1:c.2166A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408419.1:c.2166A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408420.1:c.2166A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408421.1:c.2163A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408422.1:c.2163A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408423.1:c.2163A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408424.1:c.2163A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408425.1:c.2160A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408426.1:c.2160A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408427.1:c.2160A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408428.1:c.2160A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408429.1:c.2160A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408430.1:c.2160A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408431.1:c.2160A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408432.1:c.2157A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408433.1:c.2157A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408434.1:c.2157A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408435.1:c.2157A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408436.1:c.2157A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408437.1:c.2157A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408438.1:c.2157A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408439.1:c.2157A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408440.1:c.2157A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408441.1:c.2157A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408442.1:c.2157A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408443.1:c.2157A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408444.1:c.2157A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408445.1:c.2154A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408446.1:c.2154A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408447.1:c.2154A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408448.1:c.2154A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408450.1:c.2154A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408451.1:c.2148A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408452.1:c.2142A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408453.1:c.2142A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408454.1:c.2142A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408455.1:c.2142A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408456.1:c.2142A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408457.1:c.2142A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408458.1:c.2139A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408459.1:c.2139A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408460.1:c.2139A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408461.1:c.2139A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408462.1:c.2139A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408463.1:c.2139A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408464.1:c.2139A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408465.1:c.2139A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408466.1:c.2139A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408467.1:c.2139A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408468.1:c.2136A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408469.1:c.2136A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408470.1:c.2136A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408474.1:c.2082A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408475.1:c.2079A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408476.1:c.2079A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408478.1:c.2073A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408479.1:c.2073A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408480.1:c.2073A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408481.1:c.2070A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408482.1:c.2070A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408483.1:c.2070A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408484.1:c.2070A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408485.1:c.2070A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408489.1:c.2070A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408490.1:c.2070A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408491.1:c.2070A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408492.1:c.2067A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408493.1:c.2067A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408494.1:c.2043A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408495.1:c.2037A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408496.1:c.2019A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408497.1:c.2019A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408498.1:c.2019A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408499.1:c.2019A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408500.1:c.2019A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408501.1:c.2019A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408502.1:c.2016A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408503.1:c.2016A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408504.1:c.2016A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408505.1:c.2013A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408506.1:c.1956A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408507.1:c.1953A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408508.1:c.1944A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408509.1:c.1941A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408510.1:c.1902A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408511.1:c.1899A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408512.1:c.1779A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408513.1:c.1752A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001408514.1:c.1356A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_007294.4:c.5592A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_007297.4:c.5451A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_007298.4:c.2280A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_007300.4:c.5655A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_007304.2:c.2280A>G - stop lost - [Sequence Ontology: SO:0001578]

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

Recent activity

Clear Turn Off Turn On

7358[geneid] (77)
ClinVar
RecName: Full=Tetraspanin-10; Short=Tspan-10; AltName: Full=Oculospanin
RecName: Full=Tetraspanin-10; Short=Tspan-10; AltName: Full=Oculospanin
gi|34222701|sp|Q8VCF5.1|TSN10_MOUSE

Protein
Salmonella enterica subsp. enterica strain 024289_C3_F1 contig00018, whole genom...
Salmonella enterica subsp. enterica strain 024289_C3_F1 contig00018, whole genome shotgun sequence
gi|2804661517|ref|NZ_JBHEWC01000001 gnl|WGS:NZ_JBHEWC01|contig00018

Nucleotide
UI-R-CA1-bif-h-02-0-UI.s1 UI-R-CA1 Rattus norvegicus cDNA clone UI-R-CA1-bif-h-0...
UI-R-CA1-bif-h-02-0-UI.s1 UI-R-CA1 Rattus norvegicus cDNA clone UI-R-CA1-bif-h-02-0-UI 3', mRNA sequence
gi|11392455|gnl|dbEST|6865322|gb|BF 0.1|

Nucleotide
PREDICTED: Homo sapiens glycine C-acetyltransferase (GCAT), transcript variant X...
PREDICTED: Homo sapiens glycine C-acetyltransferase (GCAT), transcript variant X6, mRNA
gi|2217339219|ref|XM_005261410.5|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002293840	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jan 10, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002293840

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jan 10, 2023)

germline

clinical testing

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002293840.3

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 1506762). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change disrupts the translational stop signal of the BRCA1 mRNA. It is expected to extend the length of the BRCA1 protein by 39 additional amino acid residues.

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine