NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln) AND Breast-ovarian cancer, familial, susceptibility to, 1
- Germline classification:
- Benign (6 submissions)
- Last evaluated:
- Aug 10, 2015
- Review status:
- 3 stars out of maximum of 4 starsreviewed by expert panel
- 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:
- RCV000112579.19
Allele description [Variation Report for NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln)]
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln)
- 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.5252G>A (p.Arg1751Gln)
- Other names:
- p.R1751Q:CGA>CAA; 5371G>A
- HGVS:
- NC_000017.11:g.43057077C>T
- NG_005905.2:g.160907G>A
- NM_001407571.1:c.5039G>A
- NM_001407581.1:c.5318G>A
- NM_001407582.1:c.5318G>A
- NM_001407583.1:c.5315G>A
- NM_001407585.1:c.5315G>A
- NM_001407587.1:c.5315G>A
- NM_001407590.1:c.5312G>A
- NM_001407591.1:c.5312G>A
- NM_001407593.1:c.5252G>A
- NM_001407594.1:c.5252G>A
- NM_001407596.1:c.5252G>A
- NM_001407597.1:c.5252G>A
- NM_001407598.1:c.5252G>A
- NM_001407602.1:c.5252G>A
- NM_001407603.1:c.5252G>A
- NM_001407605.1:c.5252G>A
- NM_001407610.1:c.5249G>A
- NM_001407611.1:c.5249G>A
- NM_001407612.1:c.5249G>A
- NM_001407613.1:c.5249G>A
- NM_001407614.1:c.5249G>A
- NM_001407615.1:c.5249G>A
- NM_001407616.1:c.5249G>A
- NM_001407617.1:c.5249G>A
- NM_001407618.1:c.5249G>A
- NM_001407619.1:c.5249G>A
- NM_001407620.1:c.5249G>A
- NM_001407621.1:c.5249G>A
- NM_001407622.1:c.5249G>A
- NM_001407623.1:c.5249G>A
- NM_001407624.1:c.5249G>A
- NM_001407625.1:c.5249G>A
- NM_001407626.1:c.5249G>A
- NM_001407627.1:c.5246G>A
- NM_001407628.1:c.5246G>A
- NM_001407629.1:c.5246G>A
- NM_001407630.1:c.5246G>A
- NM_001407631.1:c.5246G>A
- NM_001407632.1:c.5246G>A
- NM_001407633.1:c.5246G>A
- NM_001407634.1:c.5246G>A
- NM_001407635.1:c.5246G>A
- NM_001407636.1:c.5246G>A
- NM_001407637.1:c.5246G>A
- NM_001407638.1:c.5246G>A
- NM_001407639.1:c.5246G>A
- NM_001407640.1:c.5246G>A
- NM_001407641.1:c.5246G>A
- NM_001407642.1:c.5246G>A
- NM_001407644.1:c.5243G>A
- NM_001407645.1:c.5243G>A
- NM_001407646.1:c.5240G>A
- NM_001407647.1:c.5237G>A
- NM_001407648.1:c.5195G>A
- NM_001407649.1:c.5192G>A
- NM_001407652.1:c.5174G>A
- NM_001407653.1:c.5174G>A
- NM_001407654.1:c.5174G>A
- NM_001407655.1:c.5174G>A
- NM_001407656.1:c.5171G>A
- NM_001407657.1:c.5171G>A
- NM_001407658.1:c.5171G>A
- NM_001407659.1:c.5168G>A
- NM_001407660.1:c.5168G>A
- NM_001407661.1:c.5168G>A
- NM_001407662.1:c.5168G>A
- NM_001407663.1:c.5168G>A
- NM_001407664.1:c.5129G>A
- NM_001407665.1:c.5129G>A
- NM_001407666.1:c.5129G>A
- NM_001407667.1:c.5129G>A
- NM_001407668.1:c.5129G>A
- NM_001407669.1:c.5129G>A
- NM_001407670.1:c.5126G>A
- NM_001407671.1:c.5126G>A
- NM_001407672.1:c.5126G>A
- NM_001407673.1:c.5126G>A
- NM_001407674.1:c.5126G>A
- NM_001407675.1:c.5126G>A
- NM_001407676.1:c.5126G>A
- NM_001407677.1:c.5126G>A
- NM_001407678.1:c.5126G>A
- NM_001407679.1:c.5126G>A
- NM_001407680.1:c.5126G>A
- NM_001407681.1:c.5123G>A
- NM_001407682.1:c.5123G>A
- NM_001407683.1:c.5123G>A
- NM_001407684.1:c.5252G>A
- NM_001407685.1:c.5123G>A
- NM_001407686.1:c.5123G>A
- NM_001407687.1:c.5123G>A
- NM_001407688.1:c.5123G>A
- NM_001407689.1:c.5123G>A
- NM_001407690.1:c.5120G>A
- NM_001407691.1:c.5120G>A
- NM_001407692.1:c.5111G>A
- NM_001407694.1:c.5111G>A
- NM_001407695.1:c.5111G>A
- NM_001407696.1:c.5111G>A
- NM_001407697.1:c.5111G>A
- NM_001407698.1:c.5111G>A
- NM_001407724.1:c.5111G>A
- NM_001407725.1:c.5111G>A
- NM_001407726.1:c.5111G>A
- NM_001407727.1:c.5111G>A
- NM_001407728.1:c.5111G>A
- NM_001407729.1:c.5111G>A
- NM_001407730.1:c.5111G>A
- NM_001407731.1:c.5111G>A
- NM_001407732.1:c.5108G>A
- NM_001407733.1:c.5108G>A
- NM_001407734.1:c.5108G>A
- NM_001407735.1:c.5108G>A
- NM_001407736.1:c.5108G>A
- NM_001407737.1:c.5108G>A
- NM_001407738.1:c.5108G>A
- NM_001407739.1:c.5108G>A
- NM_001407740.1:c.5108G>A
- NM_001407741.1:c.5108G>A
- NM_001407742.1:c.5108G>A
- NM_001407743.1:c.5108G>A
- NM_001407744.1:c.5108G>A
- NM_001407745.1:c.5108G>A
- NM_001407746.1:c.5108G>A
- NM_001407747.1:c.5108G>A
- NM_001407748.1:c.5108G>A
- NM_001407749.1:c.5108G>A
- NM_001407750.1:c.5108G>A
- NM_001407751.1:c.5108G>A
- NM_001407752.1:c.5108G>A
- NM_001407838.1:c.5105G>A
- NM_001407839.1:c.5105G>A
- NM_001407841.1:c.5105G>A
- NM_001407842.1:c.5105G>A
- NM_001407843.1:c.5105G>A
- NM_001407844.1:c.5105G>A
- NM_001407845.1:c.5105G>A
- NM_001407846.1:c.5105G>A
- NM_001407847.1:c.5105G>A
- NM_001407848.1:c.5105G>A
- NM_001407849.1:c.5105G>A
- NM_001407850.1:c.5105G>A
- NM_001407851.1:c.5105G>A
- NM_001407852.1:c.5105G>A
- NM_001407853.1:c.5105G>A
- NM_001407854.1:c.5252G>A
- NM_001407858.1:c.5249G>A
- NM_001407859.1:c.5249G>A
- NM_001407860.1:c.5249G>A
- NM_001407861.1:c.5246G>A
- NM_001407862.1:c.5051G>A
- NM_001407863.1:c.5048G>A
- NM_001407874.1:c.5045G>A
- NM_001407875.1:c.5045G>A
- NM_001407879.1:c.5042G>A
- NM_001407881.1:c.5042G>A
- NM_001407882.1:c.5042G>A
- NM_001407884.1:c.5042G>A
- NM_001407885.1:c.5042G>A
- NM_001407886.1:c.5042G>A
- NM_001407887.1:c.5042G>A
- NM_001407889.1:c.5042G>A
- NM_001407894.1:c.5039G>A
- NM_001407895.1:c.5039G>A
- NM_001407896.1:c.5039G>A
- NM_001407897.1:c.5039G>A
- NM_001407898.1:c.5039G>A
- NM_001407899.1:c.5039G>A
- NM_001407900.1:c.5039G>A
- NM_001407902.1:c.5039G>A
- NM_001407904.1:c.5039G>A
- NM_001407906.1:c.5039G>A
- NM_001407907.1:c.5039G>A
- NM_001407908.1:c.5039G>A
- NM_001407909.1:c.5039G>A
- NM_001407910.1:c.5039G>A
- NM_001407915.1:c.5036G>A
- NM_001407916.1:c.5036G>A
- NM_001407917.1:c.5036G>A
- NM_001407918.1:c.5036G>A
- NM_001407919.1:c.5129G>A
- NM_001407920.1:c.4988G>A
- NM_001407921.1:c.4988G>A
- NM_001407922.1:c.4988G>A
- NM_001407923.1:c.4988G>A
- NM_001407924.1:c.4988G>A
- NM_001407925.1:c.4988G>A
- NM_001407926.1:c.4988G>A
- NM_001407927.1:c.4985G>A
- NM_001407928.1:c.4985G>A
- NM_001407929.1:c.4985G>A
- NM_001407930.1:c.4985G>A
- NM_001407931.1:c.4985G>A
- NM_001407932.1:c.4985G>A
- NM_001407933.1:c.4985G>A
- NM_001407934.1:c.4982G>A
- NM_001407935.1:c.4982G>A
- NM_001407936.1:c.4982G>A
- NM_001407937.1:c.5129G>A
- NM_001407938.1:c.5129G>A
- NM_001407939.1:c.5126G>A
- NM_001407940.1:c.5126G>A
- NM_001407941.1:c.5123G>A
- NM_001407942.1:c.5111G>A
- NM_001407943.1:c.5108G>A
- NM_001407944.1:c.5108G>A
- NM_001407945.1:c.5108G>A
- NM_001407946.1:c.4919G>A
- NM_001407947.1:c.4919G>A
- NM_001407948.1:c.4919G>A
- NM_001407949.1:c.4919G>A
- NM_001407950.1:c.4916G>A
- NM_001407951.1:c.4916G>A
- NM_001407952.1:c.4916G>A
- NM_001407953.1:c.4916G>A
- NM_001407954.1:c.4916G>A
- NM_001407955.1:c.4916G>A
- NM_001407956.1:c.4913G>A
- NM_001407957.1:c.4913G>A
- NM_001407958.1:c.4913G>A
- NM_001407959.1:c.4871G>A
- NM_001407960.1:c.4868G>A
- NM_001407962.1:c.4868G>A
- NM_001407963.1:c.4865G>A
- NM_001407964.1:c.4790G>A
- NM_001407965.1:c.4745G>A
- NM_001407966.1:c.4364G>A
- NM_001407967.1:c.4361G>A
- NM_001407968.1:c.2648G>A
- NM_001407969.1:c.2645G>A
- NM_001407970.1:c.2009G>A
- NM_001407971.1:c.2009G>A
- NM_001407972.1:c.2006G>A
- NM_001407973.1:c.1943G>A
- NM_001407974.1:c.1943G>A
- NM_001407975.1:c.1943G>A
- NM_001407976.1:c.1943G>A
- NM_001407977.1:c.1943G>A
- NM_001407978.1:c.1943G>A
- NM_001407979.1:c.1940G>A
- NM_001407980.1:c.1940G>A
- NM_001407981.1:c.1940G>A
- NM_001407982.1:c.1940G>A
- NM_001407983.1:c.1940G>A
- NM_001407984.1:c.1940G>A
- NM_001407985.1:c.1940G>A
- NM_001407986.1:c.1940G>A
- NM_001407990.1:c.1940G>A
- NM_001407991.1:c.1940G>A
- NM_001407992.1:c.1940G>A
- NM_001407993.1:c.1940G>A
- NM_001408392.1:c.1937G>A
- NM_001408396.1:c.1937G>A
- NM_001408397.1:c.1937G>A
- NM_001408398.1:c.1937G>A
- NM_001408399.1:c.1937G>A
- NM_001408400.1:c.1937G>A
- NM_001408401.1:c.1937G>A
- NM_001408402.1:c.1937G>A
- NM_001408403.1:c.1937G>A
- NM_001408404.1:c.1937G>A
- NM_001408406.1:c.1934G>A
- NM_001408407.1:c.1934G>A
- NM_001408408.1:c.1934G>A
- NM_001408409.1:c.1931G>A
- NM_001408410.1:c.1868G>A
- NM_001408411.1:c.1865G>A
- NM_001408412.1:c.1862G>A
- NM_001408413.1:c.1862G>A
- NM_001408414.1:c.1862G>A
- NM_001408415.1:c.1862G>A
- NM_001408416.1:c.1862G>A
- NM_001408418.1:c.1826G>A
- NM_001408419.1:c.1826G>A
- NM_001408420.1:c.1826G>A
- NM_001408421.1:c.1823G>A
- NM_001408422.1:c.1823G>A
- NM_001408423.1:c.1823G>A
- NM_001408424.1:c.1823G>A
- NM_001408425.1:c.1820G>A
- NM_001408426.1:c.1820G>A
- NM_001408427.1:c.1820G>A
- NM_001408428.1:c.1820G>A
- NM_001408429.1:c.1820G>A
- NM_001408430.1:c.1820G>A
- NM_001408431.1:c.1820G>A
- NM_001408432.1:c.1817G>A
- NM_001408433.1:c.1817G>A
- NM_001408434.1:c.1817G>A
- NM_001408435.1:c.1817G>A
- NM_001408436.1:c.1817G>A
- NM_001408437.1:c.1817G>A
- NM_001408438.1:c.1817G>A
- NM_001408439.1:c.1817G>A
- NM_001408440.1:c.1817G>A
- NM_001408441.1:c.1817G>A
- NM_001408442.1:c.1817G>A
- NM_001408443.1:c.1817G>A
- NM_001408444.1:c.1817G>A
- NM_001408445.1:c.1814G>A
- NM_001408446.1:c.1814G>A
- NM_001408447.1:c.1814G>A
- NM_001408448.1:c.1814G>A
- NM_001408450.1:c.1814G>A
- NM_001408451.1:c.1808G>A
- NM_001408452.1:c.1802G>A
- NM_001408453.1:c.1802G>A
- NM_001408454.1:c.1802G>A
- NM_001408455.1:c.1802G>A
- NM_001408456.1:c.1802G>A
- NM_001408457.1:c.1802G>A
- NM_001408458.1:c.1799G>A
- NM_001408459.1:c.1799G>A
- NM_001408460.1:c.1799G>A
- NM_001408461.1:c.1799G>A
- NM_001408462.1:c.1799G>A
- NM_001408463.1:c.1799G>A
- NM_001408464.1:c.1799G>A
- NM_001408465.1:c.1799G>A
- NM_001408466.1:c.1799G>A
- NM_001408467.1:c.1799G>A
- NM_001408468.1:c.1796G>A
- NM_001408469.1:c.1796G>A
- NM_001408470.1:c.1796G>A
- NM_001408472.1:c.1940G>A
- NM_001408473.1:c.1937G>A
- NM_001408474.1:c.1742G>A
- NM_001408475.1:c.1739G>A
- NM_001408476.1:c.1739G>A
- NM_001408478.1:c.1733G>A
- NM_001408479.1:c.1733G>A
- NM_001408480.1:c.1733G>A
- NM_001408481.1:c.1730G>A
- NM_001408482.1:c.1730G>A
- NM_001408483.1:c.1730G>A
- NM_001408484.1:c.1730G>A
- NM_001408485.1:c.1730G>A
- NM_001408489.1:c.1730G>A
- NM_001408490.1:c.1730G>A
- NM_001408491.1:c.1730G>A
- NM_001408492.1:c.1727G>A
- NM_001408493.1:c.1727G>A
- NM_001408494.1:c.1703G>A
- NM_001408495.1:c.1697G>A
- NM_001408496.1:c.1679G>A
- NM_001408497.1:c.1679G>A
- NM_001408498.1:c.1679G>A
- NM_001408499.1:c.1679G>A
- NM_001408500.1:c.1679G>A
- NM_001408501.1:c.1679G>A
- NM_001408502.1:c.1676G>A
- NM_001408503.1:c.1676G>A
- NM_001408504.1:c.1676G>A
- NM_001408505.1:c.1673G>A
- NM_001408506.1:c.1616G>A
- NM_001408507.1:c.1613G>A
- NM_001408508.1:c.1604G>A
- NM_001408509.1:c.1601G>A
- NM_001408510.1:c.1562G>A
- NM_001408511.1:c.1559G>A
- NM_001408512.1:c.1439G>A
- NM_001408513.1:c.1412G>A
- NM_001408514.1:c.1016G>A
- NM_007294.4:c.5252G>AMANE SELECT
- NM_007297.4:c.5111G>A
- NM_007298.4:c.1940G>A
- NM_007299.4:c.1940G>A
- NM_007300.4:c.5315G>A
- NM_007304.2:c.1940G>A
- NP_001394500.1:p.Arg1680Gln
- NP_001394510.1:p.Arg1773Gln
- NP_001394511.1:p.Arg1773Gln
- NP_001394512.1:p.Arg1772Gln
- NP_001394514.1:p.Arg1772Gln
- NP_001394516.1:p.Arg1772Gln
- NP_001394519.1:p.Arg1771Gln
- NP_001394520.1:p.Arg1771Gln
- NP_001394522.1:p.Arg1751Gln
- NP_001394523.1:p.Arg1751Gln
- NP_001394525.1:p.Arg1751Gln
- NP_001394526.1:p.Arg1751Gln
- NP_001394527.1:p.Arg1751Gln
- NP_001394531.1:p.Arg1751Gln
- NP_001394532.1:p.Arg1751Gln
- NP_001394534.1:p.Arg1751Gln
- NP_001394539.1:p.Arg1750Gln
- NP_001394540.1:p.Arg1750Gln
- NP_001394541.1:p.Arg1750Gln
- NP_001394542.1:p.Arg1750Gln
- NP_001394543.1:p.Arg1750Gln
- NP_001394544.1:p.Arg1750Gln
- NP_001394545.1:p.Arg1750Gln
- NP_001394546.1:p.Arg1750Gln
- NP_001394547.1:p.Arg1750Gln
- NP_001394548.1:p.Arg1750Gln
- NP_001394549.1:p.Arg1750Gln
- NP_001394550.1:p.Arg1750Gln
- NP_001394551.1:p.Arg1750Gln
- NP_001394552.1:p.Arg1750Gln
- NP_001394553.1:p.Arg1750Gln
- NP_001394554.1:p.Arg1750Gln
- NP_001394555.1:p.Arg1750Gln
- NP_001394556.1:p.Arg1749Gln
- NP_001394557.1:p.Arg1749Gln
- NP_001394558.1:p.Arg1749Gln
- NP_001394559.1:p.Arg1749Gln
- NP_001394560.1:p.Arg1749Gln
- NP_001394561.1:p.Arg1749Gln
- NP_001394562.1:p.Arg1749Gln
- NP_001394563.1:p.Arg1749Gln
- NP_001394564.1:p.Arg1749Gln
- NP_001394565.1:p.Arg1749Gln
- NP_001394566.1:p.Arg1749Gln
- NP_001394567.1:p.Arg1749Gln
- NP_001394568.1:p.Arg1749Gln
- NP_001394569.1:p.Arg1749Gln
- NP_001394570.1:p.Arg1749Gln
- NP_001394571.1:p.Arg1749Gln
- NP_001394573.1:p.Arg1748Gln
- NP_001394574.1:p.Arg1748Gln
- NP_001394575.1:p.Arg1747Gln
- NP_001394576.1:p.Arg1746Gln
- NP_001394577.1:p.Arg1732Gln
- NP_001394578.1:p.Arg1731Gln
- NP_001394581.1:p.Arg1725Gln
- NP_001394582.1:p.Arg1725Gln
- NP_001394583.1:p.Arg1725Gln
- NP_001394584.1:p.Arg1725Gln
- NP_001394585.1:p.Arg1724Gln
- NP_001394586.1:p.Arg1724Gln
- NP_001394587.1:p.Arg1724Gln
- NP_001394588.1:p.Arg1723Gln
- NP_001394589.1:p.Arg1723Gln
- NP_001394590.1:p.Arg1723Gln
- NP_001394591.1:p.Arg1723Gln
- NP_001394592.1:p.Arg1723Gln
- NP_001394593.1:p.Arg1710Gln
- NP_001394594.1:p.Arg1710Gln
- NP_001394595.1:p.Arg1710Gln
- NP_001394596.1:p.Arg1710Gln
- NP_001394597.1:p.Arg1710Gln
- NP_001394598.1:p.Arg1710Gln
- NP_001394599.1:p.Arg1709Gln
- NP_001394600.1:p.Arg1709Gln
- NP_001394601.1:p.Arg1709Gln
- NP_001394602.1:p.Arg1709Gln
- NP_001394603.1:p.Arg1709Gln
- NP_001394604.1:p.Arg1709Gln
- NP_001394605.1:p.Arg1709Gln
- NP_001394606.1:p.Arg1709Gln
- NP_001394607.1:p.Arg1709Gln
- NP_001394608.1:p.Arg1709Gln
- NP_001394609.1:p.Arg1709Gln
- NP_001394610.1:p.Arg1708Gln
- NP_001394611.1:p.Arg1708Gln
- NP_001394612.1:p.Arg1708Gln
- NP_001394613.1:p.Arg1751Gln
- NP_001394614.1:p.Arg1708Gln
- NP_001394615.1:p.Arg1708Gln
- NP_001394616.1:p.Arg1708Gln
- NP_001394617.1:p.Arg1708Gln
- NP_001394618.1:p.Arg1708Gln
- NP_001394619.1:p.Arg1707Gln
- NP_001394620.1:p.Arg1707Gln
- NP_001394621.1:p.Arg1704Gln
- NP_001394623.1:p.Arg1704Gln
- NP_001394624.1:p.Arg1704Gln
- NP_001394625.1:p.Arg1704Gln
- NP_001394626.1:p.Arg1704Gln
- NP_001394627.1:p.Arg1704Gln
- NP_001394653.1:p.Arg1704Gln
- NP_001394654.1:p.Arg1704Gln
- NP_001394655.1:p.Arg1704Gln
- NP_001394656.1:p.Arg1704Gln
- NP_001394657.1:p.Arg1704Gln
- NP_001394658.1:p.Arg1704Gln
- NP_001394659.1:p.Arg1704Gln
- NP_001394660.1:p.Arg1704Gln
- NP_001394661.1:p.Arg1703Gln
- NP_001394662.1:p.Arg1703Gln
- NP_001394663.1:p.Arg1703Gln
- NP_001394664.1:p.Arg1703Gln
- NP_001394665.1:p.Arg1703Gln
- NP_001394666.1:p.Arg1703Gln
- NP_001394667.1:p.Arg1703Gln
- NP_001394668.1:p.Arg1703Gln
- NP_001394669.1:p.Arg1703Gln
- NP_001394670.1:p.Arg1703Gln
- NP_001394671.1:p.Arg1703Gln
- NP_001394672.1:p.Arg1703Gln
- NP_001394673.1:p.Arg1703Gln
- NP_001394674.1:p.Arg1703Gln
- NP_001394675.1:p.Arg1703Gln
- NP_001394676.1:p.Arg1703Gln
- NP_001394677.1:p.Arg1703Gln
- NP_001394678.1:p.Arg1703Gln
- NP_001394679.1:p.Arg1703Gln
- NP_001394680.1:p.Arg1703Gln
- NP_001394681.1:p.Arg1703Gln
- NP_001394767.1:p.Arg1702Gln
- NP_001394768.1:p.Arg1702Gln
- NP_001394770.1:p.Arg1702Gln
- NP_001394771.1:p.Arg1702Gln
- NP_001394772.1:p.Arg1702Gln
- NP_001394773.1:p.Arg1702Gln
- NP_001394774.1:p.Arg1702Gln
- NP_001394775.1:p.Arg1702Gln
- NP_001394776.1:p.Arg1702Gln
- NP_001394777.1:p.Arg1702Gln
- NP_001394778.1:p.Arg1702Gln
- NP_001394779.1:p.Arg1702Gln
- NP_001394780.1:p.Arg1702Gln
- NP_001394781.1:p.Arg1702Gln
- NP_001394782.1:p.Arg1702Gln
- NP_001394783.1:p.Arg1751Gln
- NP_001394787.1:p.Arg1750Gln
- NP_001394788.1:p.Arg1750Gln
- NP_001394789.1:p.Arg1750Gln
- NP_001394790.1:p.Arg1749Gln
- NP_001394791.1:p.Arg1684Gln
- NP_001394792.1:p.Arg1683Gln
- NP_001394803.1:p.Arg1682Gln
- NP_001394804.1:p.Arg1682Gln
- NP_001394808.1:p.Arg1681Gln
- NP_001394810.1:p.Arg1681Gln
- NP_001394811.1:p.Arg1681Gln
- NP_001394813.1:p.Arg1681Gln
- NP_001394814.1:p.Arg1681Gln
- NP_001394815.1:p.Arg1681Gln
- NP_001394816.1:p.Arg1681Gln
- NP_001394818.1:p.Arg1681Gln
- NP_001394823.1:p.Arg1680Gln
- NP_001394824.1:p.Arg1680Gln
- NP_001394825.1:p.Arg1680Gln
- NP_001394826.1:p.Arg1680Gln
- NP_001394827.1:p.Arg1680Gln
- NP_001394828.1:p.Arg1680Gln
- NP_001394829.1:p.Arg1680Gln
- NP_001394831.1:p.Arg1680Gln
- NP_001394833.1:p.Arg1680Gln
- NP_001394835.1:p.Arg1680Gln
- NP_001394836.1:p.Arg1680Gln
- NP_001394837.1:p.Arg1680Gln
- NP_001394838.1:p.Arg1680Gln
- NP_001394839.1:p.Arg1680Gln
- NP_001394844.1:p.Arg1679Gln
- NP_001394845.1:p.Arg1679Gln
- NP_001394846.1:p.Arg1679Gln
- NP_001394847.1:p.Arg1679Gln
- NP_001394848.1:p.Arg1710Gln
- NP_001394849.1:p.Arg1663Gln
- NP_001394850.1:p.Arg1663Gln
- NP_001394851.1:p.Arg1663Gln
- NP_001394852.1:p.Arg1663Gln
- NP_001394853.1:p.Arg1663Gln
- NP_001394854.1:p.Arg1663Gln
- NP_001394855.1:p.Arg1663Gln
- NP_001394856.1:p.Arg1662Gln
- NP_001394857.1:p.Arg1662Gln
- NP_001394858.1:p.Arg1662Gln
- NP_001394859.1:p.Arg1662Gln
- NP_001394860.1:p.Arg1662Gln
- NP_001394861.1:p.Arg1662Gln
- NP_001394862.1:p.Arg1662Gln
- NP_001394863.1:p.Arg1661Gln
- NP_001394864.1:p.Arg1661Gln
- NP_001394865.1:p.Arg1661Gln
- NP_001394866.1:p.Arg1710Gln
- NP_001394867.1:p.Arg1710Gln
- NP_001394868.1:p.Arg1709Gln
- NP_001394869.1:p.Arg1709Gln
- NP_001394870.1:p.Arg1708Gln
- NP_001394871.1:p.Arg1704Gln
- NP_001394872.1:p.Arg1703Gln
- NP_001394873.1:p.Arg1703Gln
- NP_001394874.1:p.Arg1703Gln
- NP_001394875.1:p.Arg1640Gln
- NP_001394876.1:p.Arg1640Gln
- NP_001394877.1:p.Arg1640Gln
- NP_001394878.1:p.Arg1640Gln
- NP_001394879.1:p.Arg1639Gln
- NP_001394880.1:p.Arg1639Gln
- NP_001394881.1:p.Arg1639Gln
- NP_001394882.1:p.Arg1639Gln
- NP_001394883.1:p.Arg1639Gln
- NP_001394884.1:p.Arg1639Gln
- NP_001394885.1:p.Arg1638Gln
- NP_001394886.1:p.Arg1638Gln
- NP_001394887.1:p.Arg1638Gln
- NP_001394888.1:p.Arg1624Gln
- NP_001394889.1:p.Arg1623Gln
- NP_001394891.1:p.Arg1623Gln
- NP_001394892.1:p.Arg1622Gln
- NP_001394893.1:p.Arg1597Gln
- NP_001394894.1:p.Arg1582Gln
- NP_001394895.1:p.Arg1455Gln
- NP_001394896.1:p.Arg1454Gln
- NP_001394897.1:p.Arg883Gln
- NP_001394898.1:p.Arg882Gln
- NP_001394899.1:p.Arg670Gln
- NP_001394900.1:p.Arg670Gln
- NP_001394901.1:p.Arg669Gln
- NP_001394902.1:p.Arg648Gln
- NP_001394903.1:p.Arg648Gln
- NP_001394904.1:p.Arg648Gln
- NP_001394905.1:p.Arg648Gln
- NP_001394906.1:p.Arg648Gln
- NP_001394907.1:p.Arg648Gln
- NP_001394908.1:p.Arg647Gln
- NP_001394909.1:p.Arg647Gln
- NP_001394910.1:p.Arg647Gln
- NP_001394911.1:p.Arg647Gln
- NP_001394912.1:p.Arg647Gln
- NP_001394913.1:p.Arg647Gln
- NP_001394914.1:p.Arg647Gln
- NP_001394915.1:p.Arg647Gln
- NP_001394919.1:p.Arg647Gln
- NP_001394920.1:p.Arg647Gln
- NP_001394921.1:p.Arg647Gln
- NP_001394922.1:p.Arg647Gln
- NP_001395321.1:p.Arg646Gln
- NP_001395325.1:p.Arg646Gln
- NP_001395326.1:p.Arg646Gln
- NP_001395327.1:p.Arg646Gln
- NP_001395328.1:p.Arg646Gln
- NP_001395329.1:p.Arg646Gln
- NP_001395330.1:p.Arg646Gln
- NP_001395331.1:p.Arg646Gln
- NP_001395332.1:p.Arg646Gln
- NP_001395333.1:p.Arg646Gln
- NP_001395335.1:p.Arg645Gln
- NP_001395336.1:p.Arg645Gln
- NP_001395337.1:p.Arg645Gln
- NP_001395338.1:p.Arg644Gln
- NP_001395339.1:p.Arg623Gln
- NP_001395340.1:p.Arg622Gln
- NP_001395341.1:p.Arg621Gln
- NP_001395342.1:p.Arg621Gln
- NP_001395343.1:p.Arg621Gln
- NP_001395344.1:p.Arg621Gln
- NP_001395345.1:p.Arg621Gln
- NP_001395347.1:p.Arg609Gln
- NP_001395348.1:p.Arg609Gln
- NP_001395349.1:p.Arg609Gln
- NP_001395350.1:p.Arg608Gln
- NP_001395351.1:p.Arg608Gln
- NP_001395352.1:p.Arg608Gln
- NP_001395353.1:p.Arg608Gln
- NP_001395354.1:p.Arg607Gln
- NP_001395355.1:p.Arg607Gln
- NP_001395356.1:p.Arg607Gln
- NP_001395357.1:p.Arg607Gln
- NP_001395358.1:p.Arg607Gln
- NP_001395359.1:p.Arg607Gln
- NP_001395360.1:p.Arg607Gln
- NP_001395361.1:p.Arg606Gln
- NP_001395362.1:p.Arg606Gln
- NP_001395363.1:p.Arg606Gln
- NP_001395364.1:p.Arg606Gln
- NP_001395365.1:p.Arg606Gln
- NP_001395366.1:p.Arg606Gln
- NP_001395367.1:p.Arg606Gln
- NP_001395368.1:p.Arg606Gln
- NP_001395369.1:p.Arg606Gln
- NP_001395370.1:p.Arg606Gln
- NP_001395371.1:p.Arg606Gln
- NP_001395372.1:p.Arg606Gln
- NP_001395373.1:p.Arg606Gln
- NP_001395374.1:p.Arg605Gln
- NP_001395375.1:p.Arg605Gln
- NP_001395376.1:p.Arg605Gln
- NP_001395377.1:p.Arg605Gln
- NP_001395379.1:p.Arg605Gln
- NP_001395380.1:p.Arg603Gln
- NP_001395381.1:p.Arg601Gln
- NP_001395382.1:p.Arg601Gln
- NP_001395383.1:p.Arg601Gln
- NP_001395384.1:p.Arg601Gln
- NP_001395385.1:p.Arg601Gln
- NP_001395386.1:p.Arg601Gln
- NP_001395387.1:p.Arg600Gln
- NP_001395388.1:p.Arg600Gln
- NP_001395389.1:p.Arg600Gln
- NP_001395390.1:p.Arg600Gln
- NP_001395391.1:p.Arg600Gln
- NP_001395392.1:p.Arg600Gln
- NP_001395393.1:p.Arg600Gln
- NP_001395394.1:p.Arg600Gln
- NP_001395395.1:p.Arg600Gln
- NP_001395396.1:p.Arg600Gln
- NP_001395397.1:p.Arg599Gln
- NP_001395398.1:p.Arg599Gln
- NP_001395399.1:p.Arg599Gln
- NP_001395401.1:p.Arg647Gln
- NP_001395402.1:p.Arg646Gln
- NP_001395403.1:p.Arg581Gln
- NP_001395404.1:p.Arg580Gln
- NP_001395405.1:p.Arg580Gln
- NP_001395407.1:p.Arg578Gln
- NP_001395408.1:p.Arg578Gln
- NP_001395409.1:p.Arg578Gln
- NP_001395410.1:p.Arg577Gln
- NP_001395411.1:p.Arg577Gln
- NP_001395412.1:p.Arg577Gln
- NP_001395413.1:p.Arg577Gln
- NP_001395414.1:p.Arg577Gln
- NP_001395418.1:p.Arg577Gln
- NP_001395419.1:p.Arg577Gln
- NP_001395420.1:p.Arg577Gln
- NP_001395421.1:p.Arg576Gln
- NP_001395422.1:p.Arg576Gln
- NP_001395423.1:p.Arg568Gln
- NP_001395424.1:p.Arg566Gln
- NP_001395425.1:p.Arg560Gln
- NP_001395426.1:p.Arg560Gln
- NP_001395427.1:p.Arg560Gln
- NP_001395428.1:p.Arg560Gln
- NP_001395429.1:p.Arg560Gln
- NP_001395430.1:p.Arg560Gln
- NP_001395431.1:p.Arg559Gln
- NP_001395432.1:p.Arg559Gln
- NP_001395433.1:p.Arg559Gln
- NP_001395434.1:p.Arg558Gln
- NP_001395435.1:p.Arg539Gln
- NP_001395436.1:p.Arg538Gln
- NP_001395437.1:p.Arg535Gln
- NP_001395438.1:p.Arg534Gln
- NP_001395439.1:p.Arg521Gln
- NP_001395440.1:p.Arg520Gln
- NP_001395441.1:p.Arg480Gln
- NP_001395442.1:p.Arg471Gln
- NP_001395443.1:p.Arg339Gln
- NP_009225.1:p.Arg1751Gln
- NP_009225.1:p.Arg1751Gln
- NP_009228.2:p.Arg1704Gln
- NP_009229.2:p.Arg647Gln
- NP_009229.2:p.Arg647Gln
- NP_009230.2:p.Arg647Gln
- NP_009231.2:p.Arg1772Gln
- NP_009235.2:p.Arg647Gln
- LRG_292t1:c.5252G>A
- LRG_292:g.160907G>A
- LRG_292p1:p.Arg1751Gln
- NC_000017.10:g.41209094C>T
- NM_007294.3:c.5252G>A
- NM_007298.3:c.1940G>A
- NR_027676.2:n.5429G>A
- U14680.1:n.5371G>A
- p.R1751Q
This HGVS expression did not pass validation- Protein change:
- R1454Q
- Links:
- BRCA1-HCI: BRCA1_00095; dbSNP: rs80357442
- NCBI 1000 Genomes Browser:
- rs80357442
- Molecular consequence:
- NM_001407571.1:c.5039G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.5318G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.5318G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.5315G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.5315G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.5315G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.5312G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.5312G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.5252G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.5252G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.5252G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.5252G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.5252G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.5252G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.5252G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.5252G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.5249G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.5249G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.5249G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.5249G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.5249G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.5249G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.5249G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.5249G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.5249G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.5249G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.5249G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.5249G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.5249G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.5249G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.5249G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.5249G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.5249G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.5246G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.5246G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.5246G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.5246G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.5246G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.5246G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.5246G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.5246G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.5246G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.5246G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.5246G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.5246G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.5246G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.5246G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.5246G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.5246G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.5243G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.5243G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.5240G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.5237G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.5195G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.5192G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.5174G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.5174G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.5174G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.5174G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.5171G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.5171G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.5171G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.5168G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.5168G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.5168G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.5168G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.5168G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.5129G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.5129G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.5129G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.5129G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.5129G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.5129G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.5126G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.5126G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.5126G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.5126G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.5126G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.5126G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.5126G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.5126G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.5126G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.5126G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.5126G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.5123G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.5123G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.5123G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.5252G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.5123G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.5123G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.5123G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.5123G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.5123G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.5120G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.5120G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.5111G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.5111G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.5111G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.5111G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.5111G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.5111G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.5111G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.5111G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.5111G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.5111G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.5111G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.5111G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.5111G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.5111G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.5108G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.5108G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.5108G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.5108G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.5108G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.5108G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.5108G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.5108G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.5108G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.5108G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.5108G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.5108G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.5108G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.5108G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.5108G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.5108G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.5108G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.5108G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.5108G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.5108G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.5108G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.5105G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.5105G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.5105G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.5105G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.5105G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.5105G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.5105G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.5105G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.5105G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.5105G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.5105G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.5105G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.5105G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.5105G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.5105G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.5252G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.5249G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.5249G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.5249G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.5246G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.5051G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.5048G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.5045G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.5045G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.5042G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.5042G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.5042G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.5042G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.5042G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.5042G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.5042G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.5042G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.5039G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.5039G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.5039G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.5039G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.5039G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.5039G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.5039G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.5039G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.5039G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.5039G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.5039G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.5039G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.5039G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.5039G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.5036G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.5036G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.5036G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.5036G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.5129G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.4988G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.4988G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.4988G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.4988G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.4988G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.4988G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.4988G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.4985G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.4985G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.4985G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.4985G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.4985G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.4985G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.4985G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.4982G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.4982G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.4982G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.5129G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.5129G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.5126G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.5126G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.5123G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.5111G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.5108G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.5108G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.5108G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.4919G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.4919G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.4919G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.4919G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.4916G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.4916G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.4916G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.4916G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.4916G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.4916G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.4913G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.4913G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.4913G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.4871G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.4868G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.4868G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.4865G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.4790G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.4745G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.4364G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.4361G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.2648G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.2645G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.2009G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.2009G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.2006G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.1943G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.1943G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.1943G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.1943G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.1943G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.1943G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.1940G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.1940G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.1940G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.1940G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.1940G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.1940G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.1940G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.1940G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.1940G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.1940G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.1940G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.1940G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.1937G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.1937G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.1937G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.1937G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.1937G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.1937G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.1937G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.1937G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.1937G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.1937G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.1934G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.1934G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.1934G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.1931G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408410.1:c.1868G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.1865G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.1862G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.1862G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.1862G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.1862G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.1862G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.1826G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.1826G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.1826G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.1823G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.1823G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.1823G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.1823G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.1820G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.1820G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.1820G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.1820G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.1820G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.1820G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.1820G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.1817G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.1817G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.1817G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.1817G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.1817G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.1817G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.1817G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.1817G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.1817G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.1817G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.1817G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.1817G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.1817G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.1814G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.1814G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.1814G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.1814G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.1814G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408451.1:c.1808G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408452.1:c.1802G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408453.1:c.1802G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408454.1:c.1802G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408455.1:c.1802G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408456.1:c.1802G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408457.1:c.1802G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408458.1:c.1799G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408459.1:c.1799G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408460.1:c.1799G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408461.1:c.1799G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408462.1:c.1799G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408463.1:c.1799G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408464.1:c.1799G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408465.1:c.1799G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408466.1:c.1799G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408467.1:c.1799G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408468.1:c.1796G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408469.1:c.1796G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408470.1:c.1796G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408472.1:c.1940G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408473.1:c.1937G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.1742G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.1739G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.1739G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408478.1:c.1733G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408479.1:c.1733G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408480.1:c.1733G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408481.1:c.1730G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408482.1:c.1730G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408483.1:c.1730G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408484.1:c.1730G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408485.1:c.1730G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408489.1:c.1730G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408490.1:c.1730G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408491.1:c.1730G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408492.1:c.1727G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408493.1:c.1727G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.1703G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.1697G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408496.1:c.1679G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408497.1:c.1679G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408498.1:c.1679G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408499.1:c.1679G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408500.1:c.1679G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408501.1:c.1679G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408502.1:c.1676G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408503.1:c.1676G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408504.1:c.1676G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408505.1:c.1673G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408506.1:c.1616G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408507.1:c.1613G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408508.1:c.1604G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408509.1:c.1601G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408510.1:c.1562G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408511.1:c.1559G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408512.1:c.1439G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408513.1:c.1412G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408514.1:c.1016G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.5252G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.5111G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.1940G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007299.4:c.1940G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.5315G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.1940G>A - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.5429G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- Functional consequence:
- functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5252G>A, a MISSENSE variant, produced a function score of -0.15, corresponding to a functional classification of FUNCTIONAL. 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.
- Observations:
- 7
Condition(s)
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000145412 | Breast Cancer Information Core (BIC) (BRCA1) | no assertion criteria provided | Uncertain significance (May 29, 2002) | germline | clinical testing | |
SCV000244393 | Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) | reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015)) | Benign (Aug 10, 2015) | germline | curation | PubMed (1) ENIGMA BRCA1/2 Classification Criteria (2015), |
SCV000488772 | Counsyl | criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015)) | Benign (Jun 14, 2016) | unknown | clinical testing | PubMed (4) Counsyl Autosomal Dominant Disease Classification criteria (2015), |
SCV001140477 | Mendelics | criteria provided, single submitter (Mendelics Assertion Criteria 2017) | Benign (May 28, 2019) | unknown | clinical testing | |
SCV001242473 | Brotman Baty Institute, University of Washington | no classification provided | not provided | not applicable | in vitro | |
SCV001287200 | Illumina Laboratory Services, Illumina | criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019) | Likely benign (Apr 28, 2017) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | yes | 1 | 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, curation |
not provided | not applicable | not applicable | not provided | not provided | not provided | not provided | not provided | in vitro |
not provided | unknown | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Central/Eastern European | germline | yes | 1 | not provided | not provided | not provided | not provided | clinical testing |
Greek | germline | yes | 2 | not provided | not provided | not provided | not provided | clinical testing |
Western European | germline | yes | 3 | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, Allen-Brady K, Tavtigian SV, Monteiro AN, Iversen ES, Couch FJ, Goldgar DE.
Am J Hum Genet. 2007 Nov;81(5):873-83. Epub 2007 Sep 6.
- PMID:
- 17924331
- PMCID:
- PMC2265654
Stoppa-Lyonnet D, Laurent-Puig P, Essioux L, Pagès S, Ithier G, Ligot L, Fourquet A, Salmon RJ, Clough KB, Pouillart P, Bonaïti-Pellié C, Thomas G.
Am J Hum Genet. 1997 May;60(5):1021-30.
- PMID:
- 9150149
- PMCID:
- PMC1712430
Details of each submission
From Breast Cancer Information Core (BIC) (BRCA1), SCV000145412.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 1 | not provided | not provided | clinical testing | not provided |
2 | Central/Eastern European | 1 | not provided | not provided | clinical testing | not provided |
3 | Greek | 2 | not provided | not provided | clinical testing | not provided |
4 | Western European | 3 | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | 1 | not provided | not provided | not provided | |
2 | germline | yes | not provided | not provided | not provided | 1 | not provided | not provided | not provided | |
3 | germline | yes | not provided | not provided | not provided | 2 | not provided | not provided | not provided | |
4 | germline | yes | not provided | not provided | not provided | 3 | not provided | not provided | not provided |
From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000244393.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | curation | PubMed (1) |
Description
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.000206
# | 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 Counsyl, SCV000488772.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (4) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Mendelics, SCV001140477.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Brotman Baty Institute, University of Washington, SCV001242473.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | in vitro | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | not applicable | not applicable | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Illumina Laboratory Services, Illumina, SCV001287200.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (9) |
Description
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
# | 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