NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: May 6, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000162887.20

Allele description [Variation Report for NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter)]

NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter)

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.5444G>A (p.Trp1815Ter)

Other names:

p.W1815*:TGG>TAG

HGVS:

NC_000017.11:g.43047666C>T
NG_005905.2:g.170318G>A
NM_001407571.1:c.5231G>A
NM_001407581.1:c.5510G>A
NM_001407582.1:c.5510G>A
NM_001407583.1:c.5507G>A
NM_001407585.1:c.5507G>A
NM_001407587.1:c.5507G>A
NM_001407590.1:c.5504G>A
NM_001407591.1:c.5504G>A
NM_001407593.1:c.5444G>A
NM_001407594.1:c.5444G>A
NM_001407596.1:c.5444G>A
NM_001407597.1:c.5444G>A
NM_001407598.1:c.5444G>A
NM_001407602.1:c.5444G>A
NM_001407603.1:c.5444G>A
NM_001407605.1:c.5444G>A
NM_001407610.1:c.5441G>A
NM_001407611.1:c.5441G>A
NM_001407612.1:c.5441G>A
NM_001407613.1:c.5441G>A
NM_001407614.1:c.5441G>A
NM_001407615.1:c.5441G>A
NM_001407616.1:c.5441G>A
NM_001407617.1:c.5441G>A
NM_001407618.1:c.5441G>A
NM_001407619.1:c.5441G>A
NM_001407620.1:c.5441G>A
NM_001407621.1:c.5441G>A
NM_001407622.1:c.5441G>A
NM_001407623.1:c.5441G>A
NM_001407624.1:c.5441G>A
NM_001407625.1:c.5441G>A
NM_001407626.1:c.5441G>A
NM_001407627.1:c.5438G>A
NM_001407628.1:c.5438G>A
NM_001407629.1:c.5438G>A
NM_001407630.1:c.5438G>A
NM_001407631.1:c.5438G>A
NM_001407632.1:c.5438G>A
NM_001407633.1:c.5438G>A
NM_001407634.1:c.5438G>A
NM_001407635.1:c.5438G>A
NM_001407636.1:c.5438G>A
NM_001407637.1:c.5438G>A
NM_001407638.1:c.5438G>A
NM_001407639.1:c.5438G>A
NM_001407640.1:c.5438G>A
NM_001407641.1:c.5438G>A
NM_001407642.1:c.5438G>A
NM_001407644.1:c.5435G>A
NM_001407645.1:c.5435G>A
NM_001407646.1:c.5432G>A
NM_001407647.1:c.5429G>A
NM_001407648.1:c.5387G>A
NM_001407649.1:c.5384G>A
NM_001407652.1:c.5366G>A
NM_001407653.1:c.5366G>A
NM_001407654.1:c.5366G>A
NM_001407655.1:c.5366G>A
NM_001407656.1:c.5363G>A
NM_001407657.1:c.5363G>A
NM_001407658.1:c.5363G>A
NM_001407659.1:c.5360G>A
NM_001407660.1:c.5360G>A
NM_001407661.1:c.5360G>A
NM_001407662.1:c.5360G>A
NM_001407663.1:c.5360G>A
NM_001407664.1:c.5321G>A
NM_001407665.1:c.5321G>A
NM_001407666.1:c.5321G>A
NM_001407667.1:c.5321G>A
NM_001407668.1:c.5321G>A
NM_001407669.1:c.5321G>A
NM_001407670.1:c.5318G>A
NM_001407671.1:c.5318G>A
NM_001407672.1:c.5318G>A
NM_001407673.1:c.5318G>A
NM_001407674.1:c.5318G>A
NM_001407675.1:c.5318G>A
NM_001407676.1:c.5318G>A
NM_001407677.1:c.5318G>A
NM_001407678.1:c.5318G>A
NM_001407679.1:c.5318G>A
NM_001407680.1:c.5318G>A
NM_001407681.1:c.5315G>A
NM_001407682.1:c.5315G>A
NM_001407683.1:c.5315G>A
NM_001407684.1:c.5315G>A
NM_001407685.1:c.5315G>A
NM_001407686.1:c.5315G>A
NM_001407687.1:c.5315G>A
NM_001407688.1:c.5315G>A
NM_001407689.1:c.5315G>A
NM_001407690.1:c.5312G>A
NM_001407691.1:c.5312G>A
NM_001407692.1:c.5303G>A
NM_001407694.1:c.5303G>A
NM_001407695.1:c.5303G>A
NM_001407696.1:c.5303G>A
NM_001407697.1:c.5303G>A
NM_001407698.1:c.5303G>A
NM_001407724.1:c.5303G>A
NM_001407725.1:c.5303G>A
NM_001407726.1:c.5303G>A
NM_001407727.1:c.5303G>A
NM_001407728.1:c.5303G>A
NM_001407729.1:c.5303G>A
NM_001407730.1:c.5303G>A
NM_001407731.1:c.5303G>A
NM_001407732.1:c.5300G>A
NM_001407733.1:c.5300G>A
NM_001407734.1:c.5300G>A
NM_001407735.1:c.5300G>A
NM_001407736.1:c.5300G>A
NM_001407737.1:c.5300G>A
NM_001407738.1:c.5300G>A
NM_001407739.1:c.5300G>A
NM_001407740.1:c.5300G>A
NM_001407741.1:c.5300G>A
NM_001407742.1:c.5300G>A
NM_001407743.1:c.5300G>A
NM_001407744.1:c.5300G>A
NM_001407745.1:c.5300G>A
NM_001407746.1:c.5300G>A
NM_001407747.1:c.5300G>A
NM_001407748.1:c.5300G>A
NM_001407749.1:c.5300G>A
NM_001407750.1:c.5300G>A
NM_001407751.1:c.5300G>A
NM_001407752.1:c.5300G>A
NM_001407838.1:c.5297G>A
NM_001407839.1:c.5297G>A
NM_001407841.1:c.5297G>A
NM_001407842.1:c.5297G>A
NM_001407843.1:c.5297G>A
NM_001407844.1:c.5297G>A
NM_001407845.1:c.5297G>A
NM_001407846.1:c.5297G>A
NM_001407847.1:c.5297G>A
NM_001407848.1:c.5297G>A
NM_001407849.1:c.5297G>A
NM_001407850.1:c.5297G>A
NM_001407851.1:c.5297G>A
NM_001407852.1:c.5297G>A
NM_001407853.1:c.5297G>A
NM_001407854.1:c.5370G>A
NM_001407858.1:c.5367G>A
NM_001407859.1:c.5367G>A
NM_001407860.1:c.5367G>A
NM_001407861.1:c.5364G>A
NM_001407862.1:c.5243G>A
NM_001407863.1:c.5240G>A
NM_001407874.1:c.5237G>A
NM_001407875.1:c.5237G>A
NM_001407879.1:c.5234G>A
NM_001407881.1:c.5234G>A
NM_001407882.1:c.5234G>A
NM_001407884.1:c.5234G>A
NM_001407885.1:c.5234G>A
NM_001407886.1:c.5234G>A
NM_001407887.1:c.5234G>A
NM_001407889.1:c.5234G>A
NM_001407894.1:c.5231G>A
NM_001407895.1:c.5231G>A
NM_001407896.1:c.5231G>A
NM_001407897.1:c.5231G>A
NM_001407898.1:c.5231G>A
NM_001407899.1:c.5231G>A
NM_001407900.1:c.5231G>A
NM_001407902.1:c.5231G>A
NM_001407904.1:c.5231G>A
NM_001407906.1:c.5231G>A
NM_001407907.1:c.5231G>A
NM_001407908.1:c.5231G>A
NM_001407909.1:c.5231G>A
NM_001407910.1:c.5231G>A
NM_001407915.1:c.5228G>A
NM_001407916.1:c.5228G>A
NM_001407917.1:c.5228G>A
NM_001407918.1:c.5228G>A
NM_001407919.1:c.5192G>A
NM_001407920.1:c.5180G>A
NM_001407921.1:c.5180G>A
NM_001407922.1:c.5180G>A
NM_001407923.1:c.5180G>A
NM_001407924.1:c.5180G>A
NM_001407925.1:c.5180G>A
NM_001407926.1:c.5180G>A
NM_001407927.1:c.5177G>A
NM_001407928.1:c.5177G>A
NM_001407929.1:c.5177G>A
NM_001407930.1:c.5177G>A
NM_001407931.1:c.5177G>A
NM_001407932.1:c.5177G>A
NM_001407933.1:c.5177G>A
NM_001407934.1:c.5174G>A
NM_001407935.1:c.5174G>A
NM_001407936.1:c.5174G>A
NM_001407937.1:c.5247G>A
NM_001407938.1:c.5247G>A
NM_001407939.1:c.5244G>A
NM_001407940.1:c.5244G>A
NM_001407941.1:c.5241G>A
NM_001407942.1:c.5229G>A
NM_001407943.1:c.5226G>A
NM_001407944.1:c.5226G>A
NM_001407945.1:c.5226G>A
NM_001407946.1:c.5111G>A
NM_001407947.1:c.5111G>A
NM_001407948.1:c.5111G>A
NM_001407949.1:c.5111G>A
NM_001407950.1:c.5108G>A
NM_001407951.1:c.5108G>A
NM_001407952.1:c.5108G>A
NM_001407953.1:c.5108G>A
NM_001407954.1:c.5108G>A
NM_001407955.1:c.5108G>A
NM_001407956.1:c.5105G>A
NM_001407957.1:c.5105G>A
NM_001407958.1:c.5105G>A
NM_001407959.1:c.5063G>A
NM_001407960.1:c.5060G>A
NM_001407962.1:c.5060G>A
NM_001407963.1:c.5057G>A
NM_001407964.1:c.4982G>A
NM_001407965.1:c.4937G>A
NM_001407966.1:c.4556G>A
NM_001407967.1:c.4553G>A
NM_001407968.1:c.2840G>A
NM_001407969.1:c.2837G>A
NM_001407970.1:c.2201G>A
NM_001407971.1:c.2201G>A
NM_001407972.1:c.2198G>A
NM_001407973.1:c.2135G>A
NM_001407974.1:c.2135G>A
NM_001407975.1:c.2135G>A
NM_001407976.1:c.2135G>A
NM_001407977.1:c.2135G>A
NM_001407978.1:c.2135G>A
NM_001407979.1:c.2132G>A
NM_001407980.1:c.2132G>A
NM_001407981.1:c.2132G>A
NM_001407982.1:c.2132G>A
NM_001407983.1:c.2132G>A
NM_001407984.1:c.2132G>A
NM_001407985.1:c.2132G>A
NM_001407986.1:c.2132G>A
NM_001407990.1:c.2132G>A
NM_001407991.1:c.2132G>A
NM_001407992.1:c.2132G>A
NM_001407993.1:c.2132G>A
NM_001408392.1:c.2129G>A
NM_001408396.1:c.2129G>A
NM_001408397.1:c.2129G>A
NM_001408398.1:c.2129G>A
NM_001408399.1:c.2129G>A
NM_001408400.1:c.2129G>A
NM_001408401.1:c.2129G>A
NM_001408402.1:c.2129G>A
NM_001408403.1:c.2129G>A
NM_001408404.1:c.2129G>A
NM_001408406.1:c.2126G>A
NM_001408407.1:c.2126G>A
NM_001408408.1:c.2126G>A
NM_001408409.1:c.2123G>A
NM_001408410.1:c.2060G>A
NM_001408411.1:c.2057G>A
NM_001408412.1:c.2054G>A
NM_001408413.1:c.2054G>A
NM_001408414.1:c.2054G>A
NM_001408415.1:c.2054G>A
NM_001408416.1:c.2054G>A
NM_001408418.1:c.2018G>A
NM_001408419.1:c.2018G>A
NM_001408420.1:c.2018G>A
NM_001408421.1:c.2015G>A
NM_001408422.1:c.2015G>A
NM_001408423.1:c.2015G>A
NM_001408424.1:c.2015G>A
NM_001408425.1:c.2012G>A
NM_001408426.1:c.2012G>A
NM_001408427.1:c.2012G>A
NM_001408428.1:c.2012G>A
NM_001408429.1:c.2012G>A
NM_001408430.1:c.2012G>A
NM_001408431.1:c.2012G>A
NM_001408432.1:c.2009G>A
NM_001408433.1:c.2009G>A
NM_001408434.1:c.2009G>A
NM_001408435.1:c.2009G>A
NM_001408436.1:c.2009G>A
NM_001408437.1:c.2009G>A
NM_001408438.1:c.2009G>A
NM_001408439.1:c.2009G>A
NM_001408440.1:c.2009G>A
NM_001408441.1:c.2009G>A
NM_001408442.1:c.2009G>A
NM_001408443.1:c.2009G>A
NM_001408444.1:c.2009G>A
NM_001408445.1:c.2006G>A
NM_001408446.1:c.2006G>A
NM_001408447.1:c.2006G>A
NM_001408448.1:c.2006G>A
NM_001408450.1:c.2006G>A
NM_001408451.1:c.2000G>A
NM_001408452.1:c.1994G>A
NM_001408453.1:c.1994G>A
NM_001408454.1:c.1994G>A
NM_001408455.1:c.1994G>A
NM_001408456.1:c.1994G>A
NM_001408457.1:c.1994G>A
NM_001408458.1:c.1991G>A
NM_001408459.1:c.1991G>A
NM_001408460.1:c.1991G>A
NM_001408461.1:c.1991G>A
NM_001408462.1:c.1991G>A
NM_001408463.1:c.1991G>A
NM_001408464.1:c.1991G>A
NM_001408465.1:c.1991G>A
NM_001408466.1:c.1991G>A
NM_001408467.1:c.1991G>A
NM_001408468.1:c.1988G>A
NM_001408469.1:c.1988G>A
NM_001408470.1:c.1988G>A
NM_001408472.1:c.2058G>A
NM_001408473.1:c.2055G>A
NM_001408474.1:c.1934G>A
NM_001408475.1:c.1931G>A
NM_001408476.1:c.1931G>A
NM_001408478.1:c.1925G>A
NM_001408479.1:c.1925G>A
NM_001408480.1:c.1925G>A
NM_001408481.1:c.1922G>A
NM_001408482.1:c.1922G>A
NM_001408483.1:c.1922G>A
NM_001408484.1:c.1922G>A
NM_001408485.1:c.1922G>A
NM_001408489.1:c.1922G>A
NM_001408490.1:c.1922G>A
NM_001408491.1:c.1922G>A
NM_001408492.1:c.1919G>A
NM_001408493.1:c.1919G>A
NM_001408494.1:c.1895G>A
NM_001408495.1:c.1889G>A
NM_001408496.1:c.1871G>A
NM_001408497.1:c.1871G>A
NM_001408498.1:c.1871G>A
NM_001408499.1:c.1871G>A
NM_001408500.1:c.1871G>A
NM_001408501.1:c.1871G>A
NM_001408502.1:c.1868G>A
NM_001408503.1:c.1868G>A
NM_001408504.1:c.1868G>A
NM_001408505.1:c.1865G>A
NM_001408506.1:c.1808G>A
NM_001408507.1:c.1805G>A
NM_001408508.1:c.1796G>A
NM_001408509.1:c.1793G>A
NM_001408510.1:c.1754G>A
NM_001408511.1:c.1751G>A
NM_001408512.1:c.1631G>A
NM_001408513.1:c.1604G>A
NM_001408514.1:c.1208G>A
NM_007294.4:c.5444G>AMANE SELECT
NM_007297.4:c.5303G>A
NM_007298.4:c.2132G>A
NM_007299.4:c.2058G>A
NM_007300.4:c.5507G>A
NM_007304.2:c.2132G>A
NP_001394500.1:p.Trp1744Ter
NP_001394510.1:p.Trp1837Ter
NP_001394511.1:p.Trp1837Ter
NP_001394512.1:p.Trp1836Ter
NP_001394514.1:p.Trp1836Ter
NP_001394516.1:p.Trp1836Ter
NP_001394519.1:p.Trp1835Ter
NP_001394520.1:p.Trp1835Ter
NP_001394522.1:p.Trp1815Ter
NP_001394523.1:p.Trp1815Ter
NP_001394525.1:p.Trp1815Ter
NP_001394526.1:p.Trp1815Ter
NP_001394527.1:p.Trp1815Ter
NP_001394531.1:p.Trp1815Ter
NP_001394532.1:p.Trp1815Ter
NP_001394534.1:p.Trp1815Ter
NP_001394539.1:p.Trp1814Ter
NP_001394540.1:p.Trp1814Ter
NP_001394541.1:p.Trp1814Ter
NP_001394542.1:p.Trp1814Ter
NP_001394543.1:p.Trp1814Ter
NP_001394544.1:p.Trp1814Ter
NP_001394545.1:p.Trp1814Ter
NP_001394546.1:p.Trp1814Ter
NP_001394547.1:p.Trp1814Ter
NP_001394548.1:p.Trp1814Ter
NP_001394549.1:p.Trp1814Ter
NP_001394550.1:p.Trp1814Ter
NP_001394551.1:p.Trp1814Ter
NP_001394552.1:p.Trp1814Ter
NP_001394553.1:p.Trp1814Ter
NP_001394554.1:p.Trp1814Ter
NP_001394555.1:p.Trp1814Ter
NP_001394556.1:p.Trp1813Ter
NP_001394557.1:p.Trp1813Ter
NP_001394558.1:p.Trp1813Ter
NP_001394559.1:p.Trp1813Ter
NP_001394560.1:p.Trp1813Ter
NP_001394561.1:p.Trp1813Ter
NP_001394562.1:p.Trp1813Ter
NP_001394563.1:p.Trp1813Ter
NP_001394564.1:p.Trp1813Ter
NP_001394565.1:p.Trp1813Ter
NP_001394566.1:p.Trp1813Ter
NP_001394567.1:p.Trp1813Ter
NP_001394568.1:p.Trp1813Ter
NP_001394569.1:p.Trp1813Ter
NP_001394570.1:p.Trp1813Ter
NP_001394571.1:p.Trp1813Ter
NP_001394573.1:p.Trp1812Ter
NP_001394574.1:p.Trp1812Ter
NP_001394575.1:p.Trp1811Ter
NP_001394576.1:p.Trp1810Ter
NP_001394577.1:p.Trp1796Ter
NP_001394578.1:p.Trp1795Ter
NP_001394581.1:p.Trp1789Ter
NP_001394582.1:p.Trp1789Ter
NP_001394583.1:p.Trp1789Ter
NP_001394584.1:p.Trp1789Ter
NP_001394585.1:p.Trp1788Ter
NP_001394586.1:p.Trp1788Ter
NP_001394587.1:p.Trp1788Ter
NP_001394588.1:p.Trp1787Ter
NP_001394589.1:p.Trp1787Ter
NP_001394590.1:p.Trp1787Ter
NP_001394591.1:p.Trp1787Ter
NP_001394592.1:p.Trp1787Ter
NP_001394593.1:p.Trp1774Ter
NP_001394594.1:p.Trp1774Ter
NP_001394595.1:p.Trp1774Ter
NP_001394596.1:p.Trp1774Ter
NP_001394597.1:p.Trp1774Ter
NP_001394598.1:p.Trp1774Ter
NP_001394599.1:p.Trp1773Ter
NP_001394600.1:p.Trp1773Ter
NP_001394601.1:p.Trp1773Ter
NP_001394602.1:p.Trp1773Ter
NP_001394603.1:p.Trp1773Ter
NP_001394604.1:p.Trp1773Ter
NP_001394605.1:p.Trp1773Ter
NP_001394606.1:p.Trp1773Ter
NP_001394607.1:p.Trp1773Ter
NP_001394608.1:p.Trp1773Ter
NP_001394609.1:p.Trp1773Ter
NP_001394610.1:p.Trp1772Ter
NP_001394611.1:p.Trp1772Ter
NP_001394612.1:p.Trp1772Ter
NP_001394613.1:p.Trp1772Ter
NP_001394614.1:p.Trp1772Ter
NP_001394615.1:p.Trp1772Ter
NP_001394616.1:p.Trp1772Ter
NP_001394617.1:p.Trp1772Ter
NP_001394618.1:p.Trp1772Ter
NP_001394619.1:p.Trp1771Ter
NP_001394620.1:p.Trp1771Ter
NP_001394621.1:p.Trp1768Ter
NP_001394623.1:p.Trp1768Ter
NP_001394624.1:p.Trp1768Ter
NP_001394625.1:p.Trp1768Ter
NP_001394626.1:p.Trp1768Ter
NP_001394627.1:p.Trp1768Ter
NP_001394653.1:p.Trp1768Ter
NP_001394654.1:p.Trp1768Ter
NP_001394655.1:p.Trp1768Ter
NP_001394656.1:p.Trp1768Ter
NP_001394657.1:p.Trp1768Ter
NP_001394658.1:p.Trp1768Ter
NP_001394659.1:p.Trp1768Ter
NP_001394660.1:p.Trp1768Ter
NP_001394661.1:p.Trp1767Ter
NP_001394662.1:p.Trp1767Ter
NP_001394663.1:p.Trp1767Ter
NP_001394664.1:p.Trp1767Ter
NP_001394665.1:p.Trp1767Ter
NP_001394666.1:p.Trp1767Ter
NP_001394667.1:p.Trp1767Ter
NP_001394668.1:p.Trp1767Ter
NP_001394669.1:p.Trp1767Ter
NP_001394670.1:p.Trp1767Ter
NP_001394671.1:p.Trp1767Ter
NP_001394672.1:p.Trp1767Ter
NP_001394673.1:p.Trp1767Ter
NP_001394674.1:p.Trp1767Ter
NP_001394675.1:p.Trp1767Ter
NP_001394676.1:p.Trp1767Ter
NP_001394677.1:p.Trp1767Ter
NP_001394678.1:p.Trp1767Ter
NP_001394679.1:p.Trp1767Ter
NP_001394680.1:p.Trp1767Ter
NP_001394681.1:p.Trp1767Ter
NP_001394767.1:p.Trp1766Ter
NP_001394768.1:p.Trp1766Ter
NP_001394770.1:p.Trp1766Ter
NP_001394771.1:p.Trp1766Ter
NP_001394772.1:p.Trp1766Ter
NP_001394773.1:p.Trp1766Ter
NP_001394774.1:p.Trp1766Ter
NP_001394775.1:p.Trp1766Ter
NP_001394776.1:p.Trp1766Ter
NP_001394777.1:p.Trp1766Ter
NP_001394778.1:p.Trp1766Ter
NP_001394779.1:p.Trp1766Ter
NP_001394780.1:p.Trp1766Ter
NP_001394781.1:p.Trp1766Ter
NP_001394782.1:p.Trp1766Ter
NP_001394783.1:p.Leu1790=
NP_001394787.1:p.Leu1789=
NP_001394788.1:p.Leu1789=
NP_001394789.1:p.Leu1789=
NP_001394790.1:p.Leu1788=
NP_001394791.1:p.Trp1748Ter
NP_001394792.1:p.Trp1747Ter
NP_001394803.1:p.Trp1746Ter
NP_001394804.1:p.Trp1746Ter
NP_001394808.1:p.Trp1745Ter
NP_001394810.1:p.Trp1745Ter
NP_001394811.1:p.Trp1745Ter
NP_001394813.1:p.Trp1745Ter
NP_001394814.1:p.Trp1745Ter
NP_001394815.1:p.Trp1745Ter
NP_001394816.1:p.Trp1745Ter
NP_001394818.1:p.Trp1745Ter
NP_001394823.1:p.Trp1744Ter
NP_001394824.1:p.Trp1744Ter
NP_001394825.1:p.Trp1744Ter
NP_001394826.1:p.Trp1744Ter
NP_001394827.1:p.Trp1744Ter
NP_001394828.1:p.Trp1744Ter
NP_001394829.1:p.Trp1744Ter
NP_001394831.1:p.Trp1744Ter
NP_001394833.1:p.Trp1744Ter
NP_001394835.1:p.Trp1744Ter
NP_001394836.1:p.Trp1744Ter
NP_001394837.1:p.Trp1744Ter
NP_001394838.1:p.Trp1744Ter
NP_001394839.1:p.Trp1744Ter
NP_001394844.1:p.Trp1743Ter
NP_001394845.1:p.Trp1743Ter
NP_001394846.1:p.Trp1743Ter
NP_001394847.1:p.Trp1743Ter
NP_001394848.1:p.Trp1731Ter
NP_001394849.1:p.Trp1727Ter
NP_001394850.1:p.Trp1727Ter
NP_001394851.1:p.Trp1727Ter
NP_001394852.1:p.Trp1727Ter
NP_001394853.1:p.Trp1727Ter
NP_001394854.1:p.Trp1727Ter
NP_001394855.1:p.Trp1727Ter
NP_001394856.1:p.Trp1726Ter
NP_001394857.1:p.Trp1726Ter
NP_001394858.1:p.Trp1726Ter
NP_001394859.1:p.Trp1726Ter
NP_001394860.1:p.Trp1726Ter
NP_001394861.1:p.Trp1726Ter
NP_001394862.1:p.Trp1726Ter
NP_001394863.1:p.Trp1725Ter
NP_001394864.1:p.Trp1725Ter
NP_001394865.1:p.Trp1725Ter
NP_001394866.1:p.Leu1749=
NP_001394867.1:p.Leu1749=
NP_001394868.1:p.Leu1748=
NP_001394869.1:p.Leu1748=
NP_001394870.1:p.Leu1747=
NP_001394871.1:p.Leu1743=
NP_001394872.1:p.Leu1742=
NP_001394873.1:p.Leu1742=
NP_001394874.1:p.Leu1742=
NP_001394875.1:p.Trp1704Ter
NP_001394876.1:p.Trp1704Ter
NP_001394877.1:p.Trp1704Ter
NP_001394878.1:p.Trp1704Ter
NP_001394879.1:p.Trp1703Ter
NP_001394880.1:p.Trp1703Ter
NP_001394881.1:p.Trp1703Ter
NP_001394882.1:p.Trp1703Ter
NP_001394883.1:p.Trp1703Ter
NP_001394884.1:p.Trp1703Ter
NP_001394885.1:p.Trp1702Ter
NP_001394886.1:p.Trp1702Ter
NP_001394887.1:p.Trp1702Ter
NP_001394888.1:p.Trp1688Ter
NP_001394889.1:p.Trp1687Ter
NP_001394891.1:p.Trp1687Ter
NP_001394892.1:p.Trp1686Ter
NP_001394893.1:p.Trp1661Ter
NP_001394894.1:p.Trp1646Ter
NP_001394895.1:p.Trp1519Ter
NP_001394896.1:p.Trp1518Ter
NP_001394897.1:p.Trp947Ter
NP_001394898.1:p.Trp946Ter
NP_001394899.1:p.Trp734Ter
NP_001394900.1:p.Trp734Ter
NP_001394901.1:p.Trp733Ter
NP_001394902.1:p.Trp712Ter
NP_001394903.1:p.Trp712Ter
NP_001394904.1:p.Trp712Ter
NP_001394905.1:p.Trp712Ter
NP_001394906.1:p.Trp712Ter
NP_001394907.1:p.Trp712Ter
NP_001394908.1:p.Trp711Ter
NP_001394909.1:p.Trp711Ter
NP_001394910.1:p.Trp711Ter
NP_001394911.1:p.Trp711Ter
NP_001394912.1:p.Trp711Ter
NP_001394913.1:p.Trp711Ter
NP_001394914.1:p.Trp711Ter
NP_001394915.1:p.Trp711Ter
NP_001394919.1:p.Trp711Ter
NP_001394920.1:p.Trp711Ter
NP_001394921.1:p.Trp711Ter
NP_001394922.1:p.Trp711Ter
NP_001395321.1:p.Trp710Ter
NP_001395325.1:p.Trp710Ter
NP_001395326.1:p.Trp710Ter
NP_001395327.1:p.Trp710Ter
NP_001395328.1:p.Trp710Ter
NP_001395329.1:p.Trp710Ter
NP_001395330.1:p.Trp710Ter
NP_001395331.1:p.Trp710Ter
NP_001395332.1:p.Trp710Ter
NP_001395333.1:p.Trp710Ter
NP_001395335.1:p.Trp709Ter
NP_001395336.1:p.Trp709Ter
NP_001395337.1:p.Trp709Ter
NP_001395338.1:p.Trp708Ter
NP_001395339.1:p.Trp687Ter
NP_001395340.1:p.Trp686Ter
NP_001395341.1:p.Trp685Ter
NP_001395342.1:p.Trp685Ter
NP_001395343.1:p.Trp685Ter
NP_001395344.1:p.Trp685Ter
NP_001395345.1:p.Trp685Ter
NP_001395347.1:p.Trp673Ter
NP_001395348.1:p.Trp673Ter
NP_001395349.1:p.Trp673Ter
NP_001395350.1:p.Trp672Ter
NP_001395351.1:p.Trp672Ter
NP_001395352.1:p.Trp672Ter
NP_001395353.1:p.Trp672Ter
NP_001395354.1:p.Trp671Ter
NP_001395355.1:p.Trp671Ter
NP_001395356.1:p.Trp671Ter
NP_001395357.1:p.Trp671Ter
NP_001395358.1:p.Trp671Ter
NP_001395359.1:p.Trp671Ter
NP_001395360.1:p.Trp671Ter
NP_001395361.1:p.Trp670Ter
NP_001395362.1:p.Trp670Ter
NP_001395363.1:p.Trp670Ter
NP_001395364.1:p.Trp670Ter
NP_001395365.1:p.Trp670Ter
NP_001395366.1:p.Trp670Ter
NP_001395367.1:p.Trp670Ter
NP_001395368.1:p.Trp670Ter
NP_001395369.1:p.Trp670Ter
NP_001395370.1:p.Trp670Ter
NP_001395371.1:p.Trp670Ter
NP_001395372.1:p.Trp670Ter
NP_001395373.1:p.Trp670Ter
NP_001395374.1:p.Trp669Ter
NP_001395375.1:p.Trp669Ter
NP_001395376.1:p.Trp669Ter
NP_001395377.1:p.Trp669Ter
NP_001395379.1:p.Trp669Ter
NP_001395380.1:p.Trp667Ter
NP_001395381.1:p.Trp665Ter
NP_001395382.1:p.Trp665Ter
NP_001395383.1:p.Trp665Ter
NP_001395384.1:p.Trp665Ter
NP_001395385.1:p.Trp665Ter
NP_001395386.1:p.Trp665Ter
NP_001395387.1:p.Trp664Ter
NP_001395388.1:p.Trp664Ter
NP_001395389.1:p.Trp664Ter
NP_001395390.1:p.Trp664Ter
NP_001395391.1:p.Trp664Ter
NP_001395392.1:p.Trp664Ter
NP_001395393.1:p.Trp664Ter
NP_001395394.1:p.Trp664Ter
NP_001395395.1:p.Trp664Ter
NP_001395396.1:p.Trp664Ter
NP_001395397.1:p.Trp663Ter
NP_001395398.1:p.Trp663Ter
NP_001395399.1:p.Trp663Ter
NP_001395401.1:p.Leu686=
NP_001395402.1:p.Leu685=
NP_001395403.1:p.Trp645Ter
NP_001395404.1:p.Trp644Ter
NP_001395405.1:p.Trp644Ter
NP_001395407.1:p.Trp642Ter
NP_001395408.1:p.Trp642Ter
NP_001395409.1:p.Trp642Ter
NP_001395410.1:p.Trp641Ter
NP_001395411.1:p.Trp641Ter
NP_001395412.1:p.Trp641Ter
NP_001395413.1:p.Trp641Ter
NP_001395414.1:p.Trp641Ter
NP_001395418.1:p.Trp641Ter
NP_001395419.1:p.Trp641Ter
NP_001395420.1:p.Trp641Ter
NP_001395421.1:p.Trp640Ter
NP_001395422.1:p.Trp640Ter
NP_001395423.1:p.Trp632Ter
NP_001395424.1:p.Trp630Ter
NP_001395425.1:p.Trp624Ter
NP_001395426.1:p.Trp624Ter
NP_001395427.1:p.Trp624Ter
NP_001395428.1:p.Trp624Ter
NP_001395429.1:p.Trp624Ter
NP_001395430.1:p.Trp624Ter
NP_001395431.1:p.Trp623Ter
NP_001395432.1:p.Trp623Ter
NP_001395433.1:p.Trp623Ter
NP_001395434.1:p.Trp622Ter
NP_001395435.1:p.Trp603Ter
NP_001395436.1:p.Trp602Ter
NP_001395437.1:p.Trp599Ter
NP_001395438.1:p.Trp598Ter
NP_001395439.1:p.Trp585Ter
NP_001395440.1:p.Trp584Ter
NP_001395441.1:p.Trp544Ter
NP_001395442.1:p.Trp535Ter
NP_001395443.1:p.Trp403Ter
NP_009225.1:p.Trp1815Ter
NP_009225.1:p.Trp1815Ter
NP_009228.2:p.Trp1768Ter
NP_009229.2:p.Trp711Ter
NP_009229.2:p.Trp711Ter
NP_009230.2:p.Leu686=
NP_009231.2:p.Trp1836Ter
NP_009235.2:p.Trp711Ter
LRG_292t1:c.5444G>A
LRG_292:g.170318G>A
LRG_292p1:p.Trp1815Ter
NC_000017.10:g.41199683C>T
NM_007294.3:c.5444G>A
NM_007298.3:c.2132G>A
NR_027676.2:n.5621G>A
U14680.1:n.5563G>A
p.Trp1815*
p.W1815*

Nucleotide change:

5563G>A

Protein change:

W1518*

Links:

dbSNP: rs80356962

NCBI 1000 Genomes Browser:

rs80356962

Molecular consequence:

NM_001407571.1:c.5231G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407581.1:c.5510G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.5510G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.5507G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.5507G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.5507G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.5504G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.5504G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.5444G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.5444G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.5444G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.5444G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.5444G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.5444G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.5444G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.5444G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.5441G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.5441G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.5441G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.5441G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.5441G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.5441G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.5441G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.5441G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.5441G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.5441G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.5441G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.5441G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.5441G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.5441G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.5441G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.5441G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.5441G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.5438G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.5438G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.5438G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.5438G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.5438G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.5438G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.5438G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.5438G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.5438G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.5438G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.5438G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.5438G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.5438G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.5438G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.5438G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.5438G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.5435G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.5435G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.5432G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.5429G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.5387G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.5384G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.5366G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.5366G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.5366G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.5366G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.5363G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.5363G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.5363G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.5360G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.5360G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.5360G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.5360G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.5360G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.5321G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.5321G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.5321G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.5321G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.5321G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.5321G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.5318G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.5318G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.5318G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.5318G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.5318G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.5318G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.5318G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.5318G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.5318G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.5318G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.5318G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.5315G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.5315G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.5315G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.5315G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.5315G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.5315G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.5315G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.5315G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.5315G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.5312G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.5312G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407692.1:c.5303G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407694.1:c.5303G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407695.1:c.5303G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407696.1:c.5303G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407697.1:c.5303G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407698.1:c.5303G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407724.1:c.5303G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407725.1:c.5303G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407726.1:c.5303G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407727.1:c.5303G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407728.1:c.5303G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407729.1:c.5303G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407730.1:c.5303G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407731.1:c.5303G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407732.1:c.5300G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407733.1:c.5300G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407734.1:c.5300G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407735.1:c.5300G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407736.1:c.5300G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407737.1:c.5300G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407738.1:c.5300G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407739.1:c.5300G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407740.1:c.5300G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407741.1:c.5300G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407742.1:c.5300G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407743.1:c.5300G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407744.1:c.5300G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407745.1:c.5300G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407746.1:c.5300G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407747.1:c.5300G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407748.1:c.5300G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407749.1:c.5300G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407750.1:c.5300G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407751.1:c.5300G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407752.1:c.5300G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407838.1:c.5297G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407839.1:c.5297G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407841.1:c.5297G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407842.1:c.5297G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407843.1:c.5297G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407844.1:c.5297G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407845.1:c.5297G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407846.1:c.5297G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407847.1:c.5297G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407848.1:c.5297G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407849.1:c.5297G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407850.1:c.5297G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407851.1:c.5297G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407852.1:c.5297G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407853.1:c.5297G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.5243G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.5240G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.5237G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.5237G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407879.1:c.5234G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407881.1:c.5234G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407882.1:c.5234G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407884.1:c.5234G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407885.1:c.5234G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407886.1:c.5234G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407887.1:c.5234G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407889.1:c.5234G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407894.1:c.5231G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407895.1:c.5231G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407896.1:c.5231G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407897.1:c.5231G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407898.1:c.5231G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407899.1:c.5231G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407900.1:c.5231G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407902.1:c.5231G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407904.1:c.5231G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407906.1:c.5231G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407907.1:c.5231G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407908.1:c.5231G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407909.1:c.5231G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407910.1:c.5231G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407915.1:c.5228G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407916.1:c.5228G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407917.1:c.5228G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407918.1:c.5228G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.5192G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407920.1:c.5180G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407921.1:c.5180G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407922.1:c.5180G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407923.1:c.5180G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407924.1:c.5180G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407925.1:c.5180G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407926.1:c.5180G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407927.1:c.5177G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407928.1:c.5177G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407929.1:c.5177G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407930.1:c.5177G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407931.1:c.5177G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407932.1:c.5177G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407933.1:c.5177G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407934.1:c.5174G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407935.1:c.5174G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407936.1:c.5174G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407946.1:c.5111G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407947.1:c.5111G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407948.1:c.5111G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407949.1:c.5111G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407950.1:c.5108G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407951.1:c.5108G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407952.1:c.5108G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407953.1:c.5108G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407954.1:c.5108G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407955.1:c.5108G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407956.1:c.5105G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407957.1:c.5105G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407958.1:c.5105G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407959.1:c.5063G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407960.1:c.5060G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407962.1:c.5060G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407963.1:c.5057G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407964.1:c.4982G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407965.1:c.4937G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407966.1:c.4556G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407967.1:c.4553G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407968.1:c.2840G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407969.1:c.2837G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407970.1:c.2201G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407971.1:c.2201G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407972.1:c.2198G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407973.1:c.2135G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407974.1:c.2135G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407975.1:c.2135G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407976.1:c.2135G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407977.1:c.2135G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407978.1:c.2135G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407979.1:c.2132G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407980.1:c.2132G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407981.1:c.2132G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407982.1:c.2132G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407983.1:c.2132G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407984.1:c.2132G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407985.1:c.2132G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407986.1:c.2132G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407990.1:c.2132G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407991.1:c.2132G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407992.1:c.2132G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407993.1:c.2132G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408392.1:c.2129G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408396.1:c.2129G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408397.1:c.2129G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408398.1:c.2129G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408399.1:c.2129G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408400.1:c.2129G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408401.1:c.2129G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408402.1:c.2129G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408403.1:c.2129G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408404.1:c.2129G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408406.1:c.2126G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408407.1:c.2126G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408408.1:c.2126G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408409.1:c.2123G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408410.1:c.2060G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408411.1:c.2057G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408412.1:c.2054G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408413.1:c.2054G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408414.1:c.2054G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408415.1:c.2054G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408416.1:c.2054G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408418.1:c.2018G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408419.1:c.2018G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408420.1:c.2018G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408421.1:c.2015G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408422.1:c.2015G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408423.1:c.2015G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408424.1:c.2015G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408425.1:c.2012G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408426.1:c.2012G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408427.1:c.2012G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408428.1:c.2012G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408429.1:c.2012G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408430.1:c.2012G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408431.1:c.2012G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408432.1:c.2009G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408433.1:c.2009G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408434.1:c.2009G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408435.1:c.2009G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408436.1:c.2009G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408437.1:c.2009G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408438.1:c.2009G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408439.1:c.2009G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408440.1:c.2009G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408441.1:c.2009G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408442.1:c.2009G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408443.1:c.2009G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408444.1:c.2009G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408445.1:c.2006G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408446.1:c.2006G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408447.1:c.2006G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408448.1:c.2006G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408450.1:c.2006G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408451.1:c.2000G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408452.1:c.1994G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408453.1:c.1994G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408454.1:c.1994G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408455.1:c.1994G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408456.1:c.1994G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408457.1:c.1994G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408458.1:c.1991G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408459.1:c.1991G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408460.1:c.1991G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408461.1:c.1991G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408462.1:c.1991G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408463.1:c.1991G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408464.1:c.1991G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408465.1:c.1991G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408466.1:c.1991G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408467.1:c.1991G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408468.1:c.1988G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408469.1:c.1988G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408470.1:c.1988G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408474.1:c.1934G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408475.1:c.1931G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408476.1:c.1931G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408478.1:c.1925G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408479.1:c.1925G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408480.1:c.1925G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408481.1:c.1922G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408482.1:c.1922G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408483.1:c.1922G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408484.1:c.1922G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408485.1:c.1922G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408489.1:c.1922G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408490.1:c.1922G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408491.1:c.1922G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408492.1:c.1919G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408493.1:c.1919G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408494.1:c.1895G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408495.1:c.1889G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408496.1:c.1871G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408497.1:c.1871G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408498.1:c.1871G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408499.1:c.1871G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408500.1:c.1871G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408501.1:c.1871G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408502.1:c.1868G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408503.1:c.1868G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408504.1:c.1868G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408505.1:c.1865G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408506.1:c.1808G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408507.1:c.1805G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408508.1:c.1796G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408509.1:c.1793G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408510.1:c.1754G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408511.1:c.1751G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408512.1:c.1631G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408513.1:c.1604G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408514.1:c.1208G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.5444G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.5303G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_007298.4:c.2132G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.5507G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_007304.2:c.2132G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407854.1:c.5370G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407858.1:c.5367G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407859.1:c.5367G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407860.1:c.5367G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407861.1:c.5364G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407937.1:c.5247G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407938.1:c.5247G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407939.1:c.5244G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407940.1:c.5244G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407941.1:c.5241G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407942.1:c.5229G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407943.1:c.5226G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407944.1:c.5226G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407945.1:c.5226G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408472.1:c.2058G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001408473.1:c.2055G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_007299.4:c.2058G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Functional consequence:

functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000213374	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (May 6, 2024)	germline	clinical testing	PubMed (16) [See all records that cite these PMIDs] 12204006, 15365993, 19996028, 20104584, 22713736, 22798144, 24131973, 24884479, 27741520, 29797126, 29961768, 29998185, 31368036, 32658311, 33558524, 8968102 Citation Link,
SCV000693545	GeneKor MSA	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 1, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001354792	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 28, 2023)	germline	clinical testing	PubMed (10) [See all records that cite these PMIDs] 8968102, 20104584, 22798144, 29961768, 29998185, 30209399, 31368036, 32658311, 33558524, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000213374

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(May 6, 2024)

germline

clinical testing

PubMed (16)
[See all records that cite these PMIDs]

Citation Link,

SCV000693545

GeneKor MSA

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 1, 2020)

germline

clinical testing

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

SCV001354792

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 28, 2023)

germline

clinical testing

PubMed (10)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Germline mutations of BRCA1 and BRCA2 in Korean breast and/or ovarian cancer families.

Kang HC, Kim IJ, Park JH, Kwon HJ, Won YJ, Heo SC, Lee SY, Kim KH, Shin Y, Noh DY, Yang DH, Choe KJ, Lee BH, King SB, Park JG.

Hum Mutat. 2002 Sep;20(3):235.

PubMed [citation]

PMID:: 12204006

BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer.

Seo JH, Cho DY, Ahn SH, Yoon KS, Kang CS, Cho HM, Lee HS, Choe JJ, Choi CW, Kim BS, Shin SW, Kim YH, Kim JS, Son GS, Lee JB, Koo BH.

Hum Mutat. 2004 Oct;24(4):350.

PubMed [citation]

PMID:: 15365993

See all PubMed Citations (18)

Details of each submission

From Ambry Genetics, SCV000213374.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (16)

Description

The p.W1815* pathogenic mutation (also known as c.5444G>A), located in coding exon 21 of the BRCA1 gene, results from a G to A substitution at nucleotide position 5444. This changes the amino acid from a tryptophan to a stop codon within coding exon 21. This mutation has been detected in multiple breast and/or ovarian cancer patients and has been observed to segregate with disease in affected families (Montagna M et al. Cancer Res., 1996 Dec;56:5466-9; Kang HC et al. Hum. Mutat., 2002 Sep;20:235; Seo JH et al. Hum. Mutat., 2004 Oct;24:350; Oktay K et al. J Clin Oncol, 2010 Jan;28:240-4; Borg A et al. Hum Mutat, 2010 Mar;31:E1200-40; Jalkh N et al. Hered Cancer Clin Pract, 2012 Jun;10:7; Kim H et al. Breast Cancer Res Treat, 2012 Aug;134:1315-26; Safra T et al. Ann Oncol, 2013 Nov;24 Suppl 8:viii63-viii68; Silva FC et al. BMC Med Genet, 2014 May;15:55; Fernandes GC et al. Oncotarget, 2016 Dec;7:80465-80481; Kechin AA et al. Bull Exp Biol Med, 2018 May;165:94-100; Matsuo K et al. Gynecol Oncol Rep, 2018 Aug;25:98-101; Bernstein-Molho R et al. Breast Cancer Res Treat, 2019 Nov;178:231-237; Akcay IM et al. Int J Cancer, 2021 Jan;148:285-295; Moradian MM et al. Hum Genome Var, 2021 Feb;8:9). This mutation was also detected in at least one patient with pancreatic cancer (Yurgelun MB et al. Genet Med, 2019 01;21:213-223). Of note, this alteration is also designated as 5563G>A in published literature. In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation

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

From GeneKor MSA, SCV000693545.2

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

Description

This sequence change creates a premature translational stop signal at codon 1815 of the BRCA1 protein. It is expected to result in loss of a portion of the C-terminal BRCT-C functional domain (PMID: 8968102). Truncating variants in BRCA1 gene are known to be pathogenic. This particular variant has been described in the literature in multiple individuals and families affected with hereditary breast and/or ovarian cancer, segregating with disease in a family (PMID: 8968102, 26187060, 20104584). The mutation database ClinVar contains entries for this variant (Variation ID: 55580).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Color Diagnostics, LLC DBA Color Health, SCV001354792.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (10)

Description

This variant changes 1 nucleotide in exon 22 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. A functional study has reported that this variant impacts BRCA1 function in a haploid cell proliferation assay (PMID: 30209399). This variant has been reported in at least 10 individuals affected with breast and ovarian cancer (PMID: 8968102, 20104584, 22798144, 29998185, 31368036, 32658311, 33558524) and pancreatic cancer (PMID: 29961768). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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

Last Updated: Oct 13, 2024

ClinVar

Relating variation to medicine