NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) AND Malignant tumor of breast
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV001353974.10
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*
This HGVS expression did not pass validation- 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)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5444G>A, a NONSENSE variant, produced a function score of -1.58, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12.
Condition(s)
- Name:
- Malignant tumor of breast
- Synonyms:
- Malignant breast neoplasm; Cancer breast
- Identifiers:
- MONDO: MONDO:0007254; MedGen: C0006142
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000591633 | Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)
| no assertion criteria provided | Pathogenic | unknown | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | unknown | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591633.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The BRCA1 p.Trp1815X variant was identified in at least 7 of 115778 proband chromosomes (frequency: 0.0001) from individuals or families with breast or ovarian cancer (Borg 2010, Jalkh 2012, Judkins 2005, Kang 2002, Montagna 1996, Oktay 2010). The variant was also identified in dbSNP (ID: rs80356962) “With untested allele”, HGMD, UMD (2X as a causal variant), and the BIC database (4X with clinical importance). The p.Trp1815X variant leads to a premature stop codon at position 1815, which is predicted to lead to a truncated or absent protein and loss of function. Loss of function variants of the BRCA1 gene are an established mechanism of disease in hereditary breast and ovarian cancer and is the type of variant expected to cause the disorder. In summary, based on the above information, this variant meets our laboratory’s criteria to be classified as pathogenic.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Oct 13, 2024