NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln) AND Malignant tumor of breast
- Germline classification:
- Likely benign (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:
- RCV001270285.9
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.
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 |
---|---|---|---|---|---|---|
SCV000591600 | Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)
| no assertion criteria provided | Likely benign | 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), SCV000591600.2
# | 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.Arg1751Gln variant was identified in 6 of 96558 proband chromosomes (frequency: 0.000062) from individuals with breast cancer (Shimelis_2017_28283652, Gad_2002_ 12360411). The variant was found to not be associated with breast cancer in a large case-control study (Shimelis_2017_28283652). Co-occurrences with other pathogenic variant(s) have been reported (BRCA2 c.8346G>A, p.Trp2788X), providing supporting evidence for a benign role (Integrated Genetics ClinVar submission, SCV000699228.2). The variant was identified in dbSNP (ID: rs80357442), ClinVar (Benign, 3 stars, reviewed by expert panel. Classified as benign by ENIGMA in 2015, Counsyl in 2016, Mendelics in 2019, Ambry in 2014, Women's College in 2014. Classified as likely benign by Quest Diagnostics in 2018, GeneDx in 2017, Invitae in 2019, Integrated Genetics in 2018, Color in 2016, CHEO in 2017. VUS by Mount Sinai, BIC, CSER), Cosmic (Identified in tissue from carcinoma of the breast), LOVD 3.0 (VUS, unclassified, benign), ARUP Laboratories (1 - Not pathogenic or of no clinical significance) databases. The variant was identified in control databases in 10 of 282888 chromosomes at a frequency of 0.00003535 (Genome Aggregation Database March 6, 2019, v2.1.1). The variant was observed in the following populations: Latino in 2 of 35440 chromosomes (freq: 0.000056), European (non-Finnish) in 7 of 129194 chromosomes (freq: 0.000054), African in 1 of 24966 chromosomes (freq: 0.00004), but was not observed in the Ashkenazi Jewish, East Asian, European (Finnish), Other, or South Asian populations. This variant is located in the Brca1 C-terminal (BRCT) domain; a domain that is involved in double-strand break repair. Multiple functional studies suggest the variant is neutral, though one suggested it may result in susceptibility to proteolysis (Petitalot_2019_30257991, Lee_2010_ 20516115, Rowling_2010_20378548, Williams_2004_ 15172985, Thouvenot_2016_ 27802165, Lodovichi_2016_27484786, Mirkovic_2004_ 15172985). The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign.
# | 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 26, 2024