NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Pathogenic/Likely pathogenic (3 submissions)
- Last evaluated:
- Dec 21, 2023
- Review status:
- 2 stars out of maximum of 4 starscriteria provided, multiple submitters, no conflicts
- 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:
- RCV000049017.17
Allele description [Variation Report for NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met)]
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met)
- 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.5497G>A (p.Val1833Met)
- HGVS:
- NC_000017.11:g.43045773C>T
- NG_005905.2:g.172211G>A
- NM_001407571.1:c.5284G>A
- NM_001407581.1:c.5563G>A
- NM_001407582.1:c.5563G>A
- NM_001407583.1:c.5560G>A
- NM_001407585.1:c.5560G>A
- NM_001407587.1:c.5560G>A
- NM_001407590.1:c.5557G>A
- NM_001407591.1:c.5557G>A
- NM_001407593.1:c.5497G>A
- NM_001407594.1:c.5497G>A
- NM_001407596.1:c.5497G>A
- NM_001407597.1:c.5497G>A
- NM_001407598.1:c.5497G>A
- NM_001407602.1:c.5497G>A
- NM_001407603.1:c.5497G>A
- NM_001407605.1:c.5497G>A
- NM_001407610.1:c.5494G>A
- NM_001407611.1:c.5494G>A
- NM_001407612.1:c.5494G>A
- NM_001407613.1:c.5494G>A
- NM_001407614.1:c.5494G>A
- NM_001407615.1:c.5494G>A
- NM_001407616.1:c.5494G>A
- NM_001407617.1:c.5494G>A
- NM_001407618.1:c.5494G>A
- NM_001407619.1:c.5494G>A
- NM_001407620.1:c.5494G>A
- NM_001407621.1:c.5494G>A
- NM_001407622.1:c.5494G>A
- NM_001407623.1:c.5494G>A
- NM_001407624.1:c.5494G>A
- NM_001407625.1:c.5494G>A
- NM_001407626.1:c.5494G>A
- NM_001407627.1:c.5491G>A
- NM_001407628.1:c.5491G>A
- NM_001407629.1:c.5491G>A
- NM_001407630.1:c.5491G>A
- NM_001407631.1:c.5491G>A
- NM_001407632.1:c.5491G>A
- NM_001407633.1:c.5491G>A
- NM_001407634.1:c.5491G>A
- NM_001407635.1:c.5491G>A
- NM_001407636.1:c.5491G>A
- NM_001407637.1:c.5491G>A
- NM_001407638.1:c.5491G>A
- NM_001407639.1:c.5491G>A
- NM_001407640.1:c.5491G>A
- NM_001407641.1:c.5491G>A
- NM_001407642.1:c.5491G>A
- NM_001407644.1:c.5488G>A
- NM_001407645.1:c.5488G>A
- NM_001407646.1:c.5485G>A
- NM_001407647.1:c.5482G>A
- NM_001407648.1:c.5440G>A
- NM_001407649.1:c.5437G>A
- NM_001407652.1:c.5419G>A
- NM_001407653.1:c.5419G>A
- NM_001407654.1:c.5419G>A
- NM_001407655.1:c.5419G>A
- NM_001407656.1:c.5416G>A
- NM_001407657.1:c.5416G>A
- NM_001407658.1:c.5416G>A
- NM_001407659.1:c.5413G>A
- NM_001407660.1:c.5413G>A
- NM_001407661.1:c.5413G>A
- NM_001407662.1:c.5413G>A
- NM_001407663.1:c.5413G>A
- NM_001407664.1:c.5374G>A
- NM_001407665.1:c.5374G>A
- NM_001407666.1:c.5374G>A
- NM_001407667.1:c.5374G>A
- NM_001407668.1:c.5374G>A
- NM_001407669.1:c.5374G>A
- NM_001407670.1:c.5371G>A
- NM_001407671.1:c.5371G>A
- NM_001407672.1:c.5371G>A
- NM_001407673.1:c.5371G>A
- NM_001407674.1:c.5371G>A
- NM_001407675.1:c.5371G>A
- NM_001407676.1:c.5371G>A
- NM_001407677.1:c.5371G>A
- NM_001407678.1:c.5371G>A
- NM_001407679.1:c.5371G>A
- NM_001407680.1:c.5371G>A
- NM_001407681.1:c.5368G>A
- NM_001407682.1:c.5368G>A
- NM_001407683.1:c.5368G>A
- NM_001407684.1:c.5368G>A
- NM_001407685.1:c.5368G>A
- NM_001407686.1:c.5368G>A
- NM_001407687.1:c.5368G>A
- NM_001407688.1:c.5368G>A
- NM_001407689.1:c.5368G>A
- NM_001407690.1:c.5365G>A
- NM_001407691.1:c.5365G>A
- NM_001407692.1:c.5356G>A
- NM_001407694.1:c.5356G>A
- NM_001407695.1:c.5356G>A
- NM_001407696.1:c.5356G>A
- NM_001407697.1:c.5356G>A
- NM_001407698.1:c.5356G>A
- NM_001407724.1:c.5356G>A
- NM_001407725.1:c.5356G>A
- NM_001407726.1:c.5356G>A
- NM_001407727.1:c.5356G>A
- NM_001407728.1:c.5356G>A
- NM_001407729.1:c.5356G>A
- NM_001407730.1:c.5356G>A
- NM_001407731.1:c.5356G>A
- NM_001407732.1:c.5353G>A
- NM_001407733.1:c.5353G>A
- NM_001407734.1:c.5353G>A
- NM_001407735.1:c.5353G>A
- NM_001407736.1:c.5353G>A
- NM_001407737.1:c.5353G>A
- NM_001407738.1:c.5353G>A
- NM_001407739.1:c.5353G>A
- NM_001407740.1:c.5353G>A
- NM_001407741.1:c.5353G>A
- NM_001407742.1:c.5353G>A
- NM_001407743.1:c.5353G>A
- NM_001407744.1:c.5353G>A
- NM_001407745.1:c.5353G>A
- NM_001407746.1:c.5353G>A
- NM_001407747.1:c.5353G>A
- NM_001407748.1:c.5353G>A
- NM_001407749.1:c.5353G>A
- NM_001407750.1:c.5353G>A
- NM_001407751.1:c.5353G>A
- NM_001407752.1:c.5353G>A
- NM_001407838.1:c.5350G>A
- NM_001407839.1:c.5350G>A
- NM_001407841.1:c.5350G>A
- NM_001407842.1:c.5350G>A
- NM_001407843.1:c.5350G>A
- NM_001407844.1:c.5350G>A
- NM_001407845.1:c.5350G>A
- NM_001407846.1:c.5350G>A
- NM_001407847.1:c.5350G>A
- NM_001407848.1:c.5350G>A
- NM_001407849.1:c.5350G>A
- NM_001407850.1:c.5350G>A
- NM_001407851.1:c.5350G>A
- NM_001407852.1:c.5350G>A
- NM_001407853.1:c.5350G>A
- NM_001407854.1:c.*11G>A
- NM_001407858.1:c.*11G>A
- NM_001407859.1:c.*11G>A
- NM_001407860.1:c.*11G>A
- NM_001407861.1:c.*11G>A
- NM_001407862.1:c.5296G>A
- NM_001407863.1:c.5293G>A
- NM_001407874.1:c.5290G>A
- NM_001407875.1:c.5290G>A
- NM_001407879.1:c.5287G>A
- NM_001407881.1:c.5287G>A
- NM_001407882.1:c.5287G>A
- NM_001407884.1:c.5287G>A
- NM_001407885.1:c.5287G>A
- NM_001407886.1:c.5287G>A
- NM_001407887.1:c.5287G>A
- NM_001407889.1:c.5287G>A
- NM_001407894.1:c.5284G>A
- NM_001407895.1:c.5284G>A
- NM_001407896.1:c.5284G>A
- NM_001407897.1:c.5284G>A
- NM_001407898.1:c.5284G>A
- NM_001407899.1:c.5284G>A
- NM_001407900.1:c.5284G>A
- NM_001407902.1:c.5284G>A
- NM_001407904.1:c.5284G>A
- NM_001407906.1:c.5284G>A
- NM_001407907.1:c.5284G>A
- NM_001407908.1:c.5284G>A
- NM_001407909.1:c.5284G>A
- NM_001407910.1:c.5284G>A
- NM_001407915.1:c.5281G>A
- NM_001407916.1:c.5281G>A
- NM_001407917.1:c.5281G>A
- NM_001407918.1:c.5281G>A
- NM_001407919.1:c.5245G>A
- NM_001407920.1:c.5233G>A
- NM_001407921.1:c.5233G>A
- NM_001407922.1:c.5233G>A
- NM_001407923.1:c.5233G>A
- NM_001407924.1:c.5233G>A
- NM_001407925.1:c.5233G>A
- NM_001407926.1:c.5233G>A
- NM_001407927.1:c.5230G>A
- NM_001407928.1:c.5230G>A
- NM_001407929.1:c.5230G>A
- NM_001407930.1:c.5230G>A
- NM_001407931.1:c.5230G>A
- NM_001407932.1:c.5230G>A
- NM_001407933.1:c.5230G>A
- NM_001407934.1:c.5227G>A
- NM_001407935.1:c.5227G>A
- NM_001407936.1:c.5227G>A
- NM_001407937.1:c.*11G>A
- NM_001407938.1:c.*11G>A
- NM_001407939.1:c.*11G>A
- NM_001407940.1:c.*11G>A
- NM_001407941.1:c.*11G>A
- NM_001407942.1:c.*11G>A
- NM_001407943.1:c.*11G>A
- NM_001407944.1:c.*11G>A
- NM_001407945.1:c.*11G>A
- NM_001407946.1:c.5164G>A
- NM_001407947.1:c.5164G>A
- NM_001407948.1:c.5164G>A
- NM_001407949.1:c.5164G>A
- NM_001407950.1:c.5161G>A
- NM_001407951.1:c.5161G>A
- NM_001407952.1:c.5161G>A
- NM_001407953.1:c.5161G>A
- NM_001407954.1:c.5161G>A
- NM_001407955.1:c.5161G>A
- NM_001407956.1:c.5158G>A
- NM_001407957.1:c.5158G>A
- NM_001407958.1:c.5158G>A
- NM_001407959.1:c.5116G>A
- NM_001407960.1:c.5113G>A
- NM_001407962.1:c.5113G>A
- NM_001407963.1:c.5110G>A
- NM_001407964.1:c.5035G>A
- NM_001407965.1:c.4990G>A
- NM_001407966.1:c.4609G>A
- NM_001407967.1:c.4606G>A
- NM_001407968.1:c.2893G>A
- NM_001407969.1:c.2890G>A
- NM_001407970.1:c.2254G>A
- NM_001407971.1:c.2254G>A
- NM_001407972.1:c.2251G>A
- NM_001407973.1:c.2188G>A
- NM_001407974.1:c.2188G>A
- NM_001407975.1:c.2188G>A
- NM_001407976.1:c.2188G>A
- NM_001407977.1:c.2188G>A
- NM_001407978.1:c.2188G>A
- NM_001407979.1:c.2185G>A
- NM_001407980.1:c.2185G>A
- NM_001407981.1:c.2185G>A
- NM_001407982.1:c.2185G>A
- NM_001407983.1:c.2185G>A
- NM_001407984.1:c.2185G>A
- NM_001407985.1:c.2185G>A
- NM_001407986.1:c.2185G>A
- NM_001407990.1:c.2185G>A
- NM_001407991.1:c.2185G>A
- NM_001407992.1:c.2185G>A
- NM_001407993.1:c.2185G>A
- NM_001408392.1:c.2182G>A
- NM_001408396.1:c.2182G>A
- NM_001408397.1:c.2182G>A
- NM_001408398.1:c.2182G>A
- NM_001408399.1:c.2182G>A
- NM_001408400.1:c.2182G>A
- NM_001408401.1:c.2182G>A
- NM_001408402.1:c.2182G>A
- NM_001408403.1:c.2182G>A
- NM_001408404.1:c.2182G>A
- NM_001408406.1:c.2179G>A
- NM_001408407.1:c.2179G>A
- NM_001408408.1:c.2179G>A
- NM_001408409.1:c.2176G>A
- NM_001408410.1:c.2113G>A
- NM_001408411.1:c.2110G>A
- NM_001408412.1:c.2107G>A
- NM_001408413.1:c.2107G>A
- NM_001408414.1:c.2107G>A
- NM_001408415.1:c.2107G>A
- NM_001408416.1:c.2107G>A
- NM_001408418.1:c.2071G>A
- NM_001408419.1:c.2071G>A
- NM_001408420.1:c.2071G>A
- NM_001408421.1:c.2068G>A
- NM_001408422.1:c.2068G>A
- NM_001408423.1:c.2068G>A
- NM_001408424.1:c.2068G>A
- NM_001408425.1:c.2065G>A
- NM_001408426.1:c.2065G>A
- NM_001408427.1:c.2065G>A
- NM_001408428.1:c.2065G>A
- NM_001408429.1:c.2065G>A
- NM_001408430.1:c.2065G>A
- NM_001408431.1:c.2065G>A
- NM_001408432.1:c.2062G>A
- NM_001408433.1:c.2062G>A
- NM_001408434.1:c.2062G>A
- NM_001408435.1:c.2062G>A
- NM_001408436.1:c.2062G>A
- NM_001408437.1:c.2062G>A
- NM_001408438.1:c.2062G>A
- NM_001408439.1:c.2062G>A
- NM_001408440.1:c.2062G>A
- NM_001408441.1:c.2062G>A
- NM_001408442.1:c.2062G>A
- NM_001408443.1:c.2062G>A
- NM_001408444.1:c.2062G>A
- NM_001408445.1:c.2059G>A
- NM_001408446.1:c.2059G>A
- NM_001408447.1:c.2059G>A
- NM_001408448.1:c.2059G>A
- NM_001408450.1:c.2059G>A
- NM_001408451.1:c.2053G>A
- NM_001408452.1:c.2047G>A
- NM_001408453.1:c.2047G>A
- NM_001408454.1:c.2047G>A
- NM_001408455.1:c.2047G>A
- NM_001408456.1:c.2047G>A
- NM_001408457.1:c.2047G>A
- NM_001408458.1:c.2044G>A
- NM_001408459.1:c.2044G>A
- NM_001408460.1:c.2044G>A
- NM_001408461.1:c.2044G>A
- NM_001408462.1:c.2044G>A
- NM_001408463.1:c.2044G>A
- NM_001408464.1:c.2044G>A
- NM_001408465.1:c.2044G>A
- NM_001408466.1:c.2044G>A
- NM_001408467.1:c.2044G>A
- NM_001408468.1:c.2041G>A
- NM_001408469.1:c.2041G>A
- NM_001408470.1:c.2041G>A
- NM_001408472.1:c.*11G>A
- NM_001408473.1:c.*11G>A
- NM_001408474.1:c.1987G>A
- NM_001408475.1:c.1984G>A
- NM_001408476.1:c.1984G>A
- NM_001408478.1:c.1978G>A
- NM_001408479.1:c.1978G>A
- NM_001408480.1:c.1978G>A
- NM_001408481.1:c.1975G>A
- NM_001408482.1:c.1975G>A
- NM_001408483.1:c.1975G>A
- NM_001408484.1:c.1975G>A
- NM_001408485.1:c.1975G>A
- NM_001408489.1:c.1975G>A
- NM_001408490.1:c.1975G>A
- NM_001408491.1:c.1975G>A
- NM_001408492.1:c.1972G>A
- NM_001408493.1:c.1972G>A
- NM_001408494.1:c.1948G>A
- NM_001408495.1:c.1942G>A
- NM_001408496.1:c.1924G>A
- NM_001408497.1:c.1924G>A
- NM_001408498.1:c.1924G>A
- NM_001408499.1:c.1924G>A
- NM_001408500.1:c.1924G>A
- NM_001408501.1:c.1924G>A
- NM_001408502.1:c.1921G>A
- NM_001408503.1:c.1921G>A
- NM_001408504.1:c.1921G>A
- NM_001408505.1:c.1918G>A
- NM_001408506.1:c.1861G>A
- NM_001408507.1:c.1858G>A
- NM_001408508.1:c.1849G>A
- NM_001408509.1:c.1846G>A
- NM_001408510.1:c.1807G>A
- NM_001408511.1:c.1804G>A
- NM_001408512.1:c.1684G>A
- NM_001408513.1:c.1657G>A
- NM_001408514.1:c.1261G>A
- NM_007294.4:c.5497G>AMANE SELECT
- NM_007297.4:c.5356G>A
- NM_007298.4:c.2185G>A
- NM_007299.4:c.*11G>A
- NM_007300.4:c.5560G>A
- NM_007304.2:c.2185G>A
- NP_001394500.1:p.Val1762Met
- NP_001394510.1:p.Val1855Met
- NP_001394511.1:p.Val1855Met
- NP_001394512.1:p.Val1854Met
- NP_001394514.1:p.Val1854Met
- NP_001394516.1:p.Val1854Met
- NP_001394519.1:p.Val1853Met
- NP_001394520.1:p.Val1853Met
- NP_001394522.1:p.Val1833Met
- NP_001394523.1:p.Val1833Met
- NP_001394525.1:p.Val1833Met
- NP_001394526.1:p.Val1833Met
- NP_001394527.1:p.Val1833Met
- NP_001394531.1:p.Val1833Met
- NP_001394532.1:p.Val1833Met
- NP_001394534.1:p.Val1833Met
- NP_001394539.1:p.Val1832Met
- NP_001394540.1:p.Val1832Met
- NP_001394541.1:p.Val1832Met
- NP_001394542.1:p.Val1832Met
- NP_001394543.1:p.Val1832Met
- NP_001394544.1:p.Val1832Met
- NP_001394545.1:p.Val1832Met
- NP_001394546.1:p.Val1832Met
- NP_001394547.1:p.Val1832Met
- NP_001394548.1:p.Val1832Met
- NP_001394549.1:p.Val1832Met
- NP_001394550.1:p.Val1832Met
- NP_001394551.1:p.Val1832Met
- NP_001394552.1:p.Val1832Met
- NP_001394553.1:p.Val1832Met
- NP_001394554.1:p.Val1832Met
- NP_001394555.1:p.Val1832Met
- NP_001394556.1:p.Val1831Met
- NP_001394557.1:p.Val1831Met
- NP_001394558.1:p.Val1831Met
- NP_001394559.1:p.Val1831Met
- NP_001394560.1:p.Val1831Met
- NP_001394561.1:p.Val1831Met
- NP_001394562.1:p.Val1831Met
- NP_001394563.1:p.Val1831Met
- NP_001394564.1:p.Val1831Met
- NP_001394565.1:p.Val1831Met
- NP_001394566.1:p.Val1831Met
- NP_001394567.1:p.Val1831Met
- NP_001394568.1:p.Val1831Met
- NP_001394569.1:p.Val1831Met
- NP_001394570.1:p.Val1831Met
- NP_001394571.1:p.Val1831Met
- NP_001394573.1:p.Val1830Met
- NP_001394574.1:p.Val1830Met
- NP_001394575.1:p.Val1829Met
- NP_001394576.1:p.Val1828Met
- NP_001394577.1:p.Val1814Met
- NP_001394578.1:p.Val1813Met
- NP_001394581.1:p.Val1807Met
- NP_001394582.1:p.Val1807Met
- NP_001394583.1:p.Val1807Met
- NP_001394584.1:p.Val1807Met
- NP_001394585.1:p.Val1806Met
- NP_001394586.1:p.Val1806Met
- NP_001394587.1:p.Val1806Met
- NP_001394588.1:p.Val1805Met
- NP_001394589.1:p.Val1805Met
- NP_001394590.1:p.Val1805Met
- NP_001394591.1:p.Val1805Met
- NP_001394592.1:p.Val1805Met
- NP_001394593.1:p.Val1792Met
- NP_001394594.1:p.Val1792Met
- NP_001394595.1:p.Val1792Met
- NP_001394596.1:p.Val1792Met
- NP_001394597.1:p.Val1792Met
- NP_001394598.1:p.Val1792Met
- NP_001394599.1:p.Val1791Met
- NP_001394600.1:p.Val1791Met
- NP_001394601.1:p.Val1791Met
- NP_001394602.1:p.Val1791Met
- NP_001394603.1:p.Val1791Met
- NP_001394604.1:p.Val1791Met
- NP_001394605.1:p.Val1791Met
- NP_001394606.1:p.Val1791Met
- NP_001394607.1:p.Val1791Met
- NP_001394608.1:p.Val1791Met
- NP_001394609.1:p.Val1791Met
- NP_001394610.1:p.Val1790Met
- NP_001394611.1:p.Val1790Met
- NP_001394612.1:p.Val1790Met
- NP_001394613.1:p.Val1790Met
- NP_001394614.1:p.Val1790Met
- NP_001394615.1:p.Val1790Met
- NP_001394616.1:p.Val1790Met
- NP_001394617.1:p.Val1790Met
- NP_001394618.1:p.Val1790Met
- NP_001394619.1:p.Val1789Met
- NP_001394620.1:p.Val1789Met
- NP_001394621.1:p.Val1786Met
- NP_001394623.1:p.Val1786Met
- NP_001394624.1:p.Val1786Met
- NP_001394625.1:p.Val1786Met
- NP_001394626.1:p.Val1786Met
- NP_001394627.1:p.Val1786Met
- NP_001394653.1:p.Val1786Met
- NP_001394654.1:p.Val1786Met
- NP_001394655.1:p.Val1786Met
- NP_001394656.1:p.Val1786Met
- NP_001394657.1:p.Val1786Met
- NP_001394658.1:p.Val1786Met
- NP_001394659.1:p.Val1786Met
- NP_001394660.1:p.Val1786Met
- NP_001394661.1:p.Val1785Met
- NP_001394662.1:p.Val1785Met
- NP_001394663.1:p.Val1785Met
- NP_001394664.1:p.Val1785Met
- NP_001394665.1:p.Val1785Met
- NP_001394666.1:p.Val1785Met
- NP_001394667.1:p.Val1785Met
- NP_001394668.1:p.Val1785Met
- NP_001394669.1:p.Val1785Met
- NP_001394670.1:p.Val1785Met
- NP_001394671.1:p.Val1785Met
- NP_001394672.1:p.Val1785Met
- NP_001394673.1:p.Val1785Met
- NP_001394674.1:p.Val1785Met
- NP_001394675.1:p.Val1785Met
- NP_001394676.1:p.Val1785Met
- NP_001394677.1:p.Val1785Met
- NP_001394678.1:p.Val1785Met
- NP_001394679.1:p.Val1785Met
- NP_001394680.1:p.Val1785Met
- NP_001394681.1:p.Val1785Met
- NP_001394767.1:p.Val1784Met
- NP_001394768.1:p.Val1784Met
- NP_001394770.1:p.Val1784Met
- NP_001394771.1:p.Val1784Met
- NP_001394772.1:p.Val1784Met
- NP_001394773.1:p.Val1784Met
- NP_001394774.1:p.Val1784Met
- NP_001394775.1:p.Val1784Met
- NP_001394776.1:p.Val1784Met
- NP_001394777.1:p.Val1784Met
- NP_001394778.1:p.Val1784Met
- NP_001394779.1:p.Val1784Met
- NP_001394780.1:p.Val1784Met
- NP_001394781.1:p.Val1784Met
- NP_001394782.1:p.Val1784Met
- NP_001394791.1:p.Val1766Met
- NP_001394792.1:p.Val1765Met
- NP_001394803.1:p.Val1764Met
- NP_001394804.1:p.Val1764Met
- NP_001394808.1:p.Val1763Met
- NP_001394810.1:p.Val1763Met
- NP_001394811.1:p.Val1763Met
- NP_001394813.1:p.Val1763Met
- NP_001394814.1:p.Val1763Met
- NP_001394815.1:p.Val1763Met
- NP_001394816.1:p.Val1763Met
- NP_001394818.1:p.Val1763Met
- NP_001394823.1:p.Val1762Met
- NP_001394824.1:p.Val1762Met
- NP_001394825.1:p.Val1762Met
- NP_001394826.1:p.Val1762Met
- NP_001394827.1:p.Val1762Met
- NP_001394828.1:p.Val1762Met
- NP_001394829.1:p.Val1762Met
- NP_001394831.1:p.Val1762Met
- NP_001394833.1:p.Val1762Met
- NP_001394835.1:p.Val1762Met
- NP_001394836.1:p.Val1762Met
- NP_001394837.1:p.Val1762Met
- NP_001394838.1:p.Val1762Met
- NP_001394839.1:p.Val1762Met
- NP_001394844.1:p.Val1761Met
- NP_001394845.1:p.Val1761Met
- NP_001394846.1:p.Val1761Met
- NP_001394847.1:p.Val1761Met
- NP_001394848.1:p.Val1749Met
- NP_001394849.1:p.Val1745Met
- NP_001394850.1:p.Val1745Met
- NP_001394851.1:p.Val1745Met
- NP_001394852.1:p.Val1745Met
- NP_001394853.1:p.Val1745Met
- NP_001394854.1:p.Val1745Met
- NP_001394855.1:p.Val1745Met
- NP_001394856.1:p.Val1744Met
- NP_001394857.1:p.Val1744Met
- NP_001394858.1:p.Val1744Met
- NP_001394859.1:p.Val1744Met
- NP_001394860.1:p.Val1744Met
- NP_001394861.1:p.Val1744Met
- NP_001394862.1:p.Val1744Met
- NP_001394863.1:p.Val1743Met
- NP_001394864.1:p.Val1743Met
- NP_001394865.1:p.Val1743Met
- NP_001394875.1:p.Val1722Met
- NP_001394876.1:p.Val1722Met
- NP_001394877.1:p.Val1722Met
- NP_001394878.1:p.Val1722Met
- NP_001394879.1:p.Val1721Met
- NP_001394880.1:p.Val1721Met
- NP_001394881.1:p.Val1721Met
- NP_001394882.1:p.Val1721Met
- NP_001394883.1:p.Val1721Met
- NP_001394884.1:p.Val1721Met
- NP_001394885.1:p.Val1720Met
- NP_001394886.1:p.Val1720Met
- NP_001394887.1:p.Val1720Met
- NP_001394888.1:p.Val1706Met
- NP_001394889.1:p.Val1705Met
- NP_001394891.1:p.Val1705Met
- NP_001394892.1:p.Val1704Met
- NP_001394893.1:p.Val1679Met
- NP_001394894.1:p.Val1664Met
- NP_001394895.1:p.Val1537Met
- NP_001394896.1:p.Val1536Met
- NP_001394897.1:p.Val965Met
- NP_001394898.1:p.Val964Met
- NP_001394899.1:p.Val752Met
- NP_001394900.1:p.Val752Met
- NP_001394901.1:p.Val751Met
- NP_001394902.1:p.Val730Met
- NP_001394903.1:p.Val730Met
- NP_001394904.1:p.Val730Met
- NP_001394905.1:p.Val730Met
- NP_001394906.1:p.Val730Met
- NP_001394907.1:p.Val730Met
- NP_001394908.1:p.Val729Met
- NP_001394909.1:p.Val729Met
- NP_001394910.1:p.Val729Met
- NP_001394911.1:p.Val729Met
- NP_001394912.1:p.Val729Met
- NP_001394913.1:p.Val729Met
- NP_001394914.1:p.Val729Met
- NP_001394915.1:p.Val729Met
- NP_001394919.1:p.Val729Met
- NP_001394920.1:p.Val729Met
- NP_001394921.1:p.Val729Met
- NP_001394922.1:p.Val729Met
- NP_001395321.1:p.Val728Met
- NP_001395325.1:p.Val728Met
- NP_001395326.1:p.Val728Met
- NP_001395327.1:p.Val728Met
- NP_001395328.1:p.Val728Met
- NP_001395329.1:p.Val728Met
- NP_001395330.1:p.Val728Met
- NP_001395331.1:p.Val728Met
- NP_001395332.1:p.Val728Met
- NP_001395333.1:p.Val728Met
- NP_001395335.1:p.Val727Met
- NP_001395336.1:p.Val727Met
- NP_001395337.1:p.Val727Met
- NP_001395338.1:p.Val726Met
- NP_001395339.1:p.Val705Met
- NP_001395340.1:p.Val704Met
- NP_001395341.1:p.Val703Met
- NP_001395342.1:p.Val703Met
- NP_001395343.1:p.Val703Met
- NP_001395344.1:p.Val703Met
- NP_001395345.1:p.Val703Met
- NP_001395347.1:p.Val691Met
- NP_001395348.1:p.Val691Met
- NP_001395349.1:p.Val691Met
- NP_001395350.1:p.Val690Met
- NP_001395351.1:p.Val690Met
- NP_001395352.1:p.Val690Met
- NP_001395353.1:p.Val690Met
- NP_001395354.1:p.Val689Met
- NP_001395355.1:p.Val689Met
- NP_001395356.1:p.Val689Met
- NP_001395357.1:p.Val689Met
- NP_001395358.1:p.Val689Met
- NP_001395359.1:p.Val689Met
- NP_001395360.1:p.Val689Met
- NP_001395361.1:p.Val688Met
- NP_001395362.1:p.Val688Met
- NP_001395363.1:p.Val688Met
- NP_001395364.1:p.Val688Met
- NP_001395365.1:p.Val688Met
- NP_001395366.1:p.Val688Met
- NP_001395367.1:p.Val688Met
- NP_001395368.1:p.Val688Met
- NP_001395369.1:p.Val688Met
- NP_001395370.1:p.Val688Met
- NP_001395371.1:p.Val688Met
- NP_001395372.1:p.Val688Met
- NP_001395373.1:p.Val688Met
- NP_001395374.1:p.Val687Met
- NP_001395375.1:p.Val687Met
- NP_001395376.1:p.Val687Met
- NP_001395377.1:p.Val687Met
- NP_001395379.1:p.Val687Met
- NP_001395380.1:p.Val685Met
- NP_001395381.1:p.Val683Met
- NP_001395382.1:p.Val683Met
- NP_001395383.1:p.Val683Met
- NP_001395384.1:p.Val683Met
- NP_001395385.1:p.Val683Met
- NP_001395386.1:p.Val683Met
- NP_001395387.1:p.Val682Met
- NP_001395388.1:p.Val682Met
- NP_001395389.1:p.Val682Met
- NP_001395390.1:p.Val682Met
- NP_001395391.1:p.Val682Met
- NP_001395392.1:p.Val682Met
- NP_001395393.1:p.Val682Met
- NP_001395394.1:p.Val682Met
- NP_001395395.1:p.Val682Met
- NP_001395396.1:p.Val682Met
- NP_001395397.1:p.Val681Met
- NP_001395398.1:p.Val681Met
- NP_001395399.1:p.Val681Met
- NP_001395403.1:p.Val663Met
- NP_001395404.1:p.Val662Met
- NP_001395405.1:p.Val662Met
- NP_001395407.1:p.Val660Met
- NP_001395408.1:p.Val660Met
- NP_001395409.1:p.Val660Met
- NP_001395410.1:p.Val659Met
- NP_001395411.1:p.Val659Met
- NP_001395412.1:p.Val659Met
- NP_001395413.1:p.Val659Met
- NP_001395414.1:p.Val659Met
- NP_001395418.1:p.Val659Met
- NP_001395419.1:p.Val659Met
- NP_001395420.1:p.Val659Met
- NP_001395421.1:p.Val658Met
- NP_001395422.1:p.Val658Met
- NP_001395423.1:p.Val650Met
- NP_001395424.1:p.Val648Met
- NP_001395425.1:p.Val642Met
- NP_001395426.1:p.Val642Met
- NP_001395427.1:p.Val642Met
- NP_001395428.1:p.Val642Met
- NP_001395429.1:p.Val642Met
- NP_001395430.1:p.Val642Met
- NP_001395431.1:p.Val641Met
- NP_001395432.1:p.Val641Met
- NP_001395433.1:p.Val641Met
- NP_001395434.1:p.Val640Met
- NP_001395435.1:p.Val621Met
- NP_001395436.1:p.Val620Met
- NP_001395437.1:p.Val617Met
- NP_001395438.1:p.Val616Met
- NP_001395439.1:p.Val603Met
- NP_001395440.1:p.Val602Met
- NP_001395441.1:p.Val562Met
- NP_001395442.1:p.Val553Met
- NP_001395443.1:p.Val421Met
- NP_009225.1:p.Val1833Met
- NP_009225.1:p.Val1833Met
- NP_009228.2:p.Val1786Met
- NP_009229.2:p.Val729Met
- NP_009229.2:p.Val729Met
- NP_009231.2:p.Val1854Met
- NP_009235.2:p.Val729Met
- LRG_292t1:c.5497G>A
- LRG_292:g.172211G>A
- LRG_292p1:p.Val1833Met
- NC_000017.10:g.41197790C>T
- NM_007294.3:c.5497G>A
- NM_007298.3:c.2185G>A
- NR_027676.2:n.5674G>A
- U14680.1:n.5616G>A
- p.V1833M
This HGVS expression did not pass validation- Nucleotide change:
- 5616G>A
- Protein change:
- V1536M
- Links:
- dbSNP: rs80357268
- NCBI 1000 Genomes Browser:
- rs80357268
- Molecular consequence:
- NM_007299.4:c.*11G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
- NM_001407571.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.5563G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.5563G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.5560G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.5560G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.5560G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.5557G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.5557G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.5497G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.5497G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.5497G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.5497G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.5497G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.5497G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.5497G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.5497G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.5488G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.5488G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.5485G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.5482G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.5440G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.5437G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.5419G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.5419G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.5419G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.5419G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.5416G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.5416G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.5416G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.5413G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.5413G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.5413G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.5413G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.5413G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.5374G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.5374G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.5374G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.5374G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.5374G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.5374G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.5371G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.5371G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.5371G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.5371G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.5371G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.5371G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.5371G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.5371G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.5371G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.5371G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.5371G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.5368G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.5368G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.5368G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.5368G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.5368G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.5368G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.5368G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.5368G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.5368G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.5365G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.5365G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.5356G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.5356G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.5356G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.5356G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.5356G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.5356G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.5356G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.5356G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.5356G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.5356G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.5356G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.5356G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.5356G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.5356G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.5353G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.5350G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.5350G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.5350G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.5350G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.5350G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.5350G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.5350G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.5350G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.5350G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.5350G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.5350G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.5350G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.5350G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.5350G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.5350G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.5296G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.5293G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.5290G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.5290G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.5287G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.5287G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.5287G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.5287G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.5287G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.5287G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.5287G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.5287G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.5284G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.5281G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.5281G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.5281G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.5281G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.5245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.5233G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.5233G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.5233G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.5233G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.5233G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.5233G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.5233G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.5230G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.5230G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.5230G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.5230G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.5230G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.5230G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.5230G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.5227G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.5227G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.5227G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.5164G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.5164G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.5164G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.5164G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.5161G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.5161G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.5161G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.5161G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.5161G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.5161G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.5158G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.5158G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.5158G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.5116G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.5113G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.5113G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.5110G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.5035G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.4990G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.4609G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.4606G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.2893G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.2890G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.2254G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.2254G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.2251G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.2188G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.2188G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.2188G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.2188G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.2188G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.2188G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.2179G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.2179G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.2179G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.2176G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408410.1:c.2113G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.2110G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.2107G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.2107G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.2107G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.2107G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.2107G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.2071G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.2071G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.2071G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.2068G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.2068G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.2068G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.2068G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.2065G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.2065G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.2065G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.2065G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.2065G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.2065G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.2065G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.2062G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.2062G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.2062G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.2062G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.2062G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.2062G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.2062G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.2062G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.2062G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.2062G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.2062G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.2062G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.2062G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.2059G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.2059G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.2059G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.2059G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.2059G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408451.1:c.2053G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408452.1:c.2047G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408453.1:c.2047G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408454.1:c.2047G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408455.1:c.2047G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408456.1:c.2047G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408457.1:c.2047G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408458.1:c.2044G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408459.1:c.2044G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408460.1:c.2044G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408461.1:c.2044G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408462.1:c.2044G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408463.1:c.2044G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408464.1:c.2044G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408465.1:c.2044G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408466.1:c.2044G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408467.1:c.2044G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408468.1:c.2041G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408469.1:c.2041G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408470.1:c.2041G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.1987G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.1984G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.1984G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408478.1:c.1978G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408479.1:c.1978G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408480.1:c.1978G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408481.1:c.1975G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408482.1:c.1975G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408483.1:c.1975G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408484.1:c.1975G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408485.1:c.1975G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408489.1:c.1975G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408490.1:c.1975G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408491.1:c.1975G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408492.1:c.1972G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408493.1:c.1972G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.1948G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.1942G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408496.1:c.1924G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408497.1:c.1924G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408498.1:c.1924G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408499.1:c.1924G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408500.1:c.1924G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408501.1:c.1924G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408502.1:c.1921G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408503.1:c.1921G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408504.1:c.1921G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408505.1:c.1918G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408506.1:c.1861G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408507.1:c.1858G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408508.1:c.1849G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408509.1:c.1846G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408510.1:c.1807G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408511.1:c.1804G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408512.1:c.1684G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408513.1:c.1657G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408514.1:c.1261G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.5497G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.5356G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.5560G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.5674G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- Functional consequence:
- functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5497G>A, a MISSENSE variant, produced a function score of -2.18, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12.
Condition(s)
- Name:
- Hereditary breast ovarian cancer syndrome
- Synonyms:
- Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145
-
Homo sapiens BBP-like protein 1 (BLP1), mRNA
Homo sapiens BBP-like protein 1 (BLP1), mRNAgi|13994326|ref|NM_031940.1|Nucleotide
-
Homo sapiens TRM2 tRNA methyltransferase 2 homolog B (S. cerevisiae), mRNA (cDNA...
Homo sapiens TRM2 tRNA methyltransferase 2 homolog B (S. cerevisiae), mRNA (cDNA clone MGC:15024 IMAGE:2988022), complete cdsgi|14043084|gb|BC007526.1|Nucleotide
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000077030 | Labcorp Genetics (formerly Invitae), Labcorp | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Pathogenic (Dec 21, 2023) | germline | clinical testing | |
SCV000693500 | GeneKor MSA | criteria provided, single submitter (ACMG Guidelines, 2015) | Likely pathogenic (Jan 1, 2020) | germline | clinical testing | |
SCV000699266 | Women's Health and Genetics/Laboratory Corporation of America, LabCorp | criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) | Pathogenic (Nov 16, 2022) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
The breast cancer information core: database design, structure, and scope.
Szabo C, Masiello A, Ryan JF, Brody LC.
Hum Mutat. 2000;16(2):123-31.
- PMID:
- 10923033
Nursing welcome mat to the hospital, an advanced practice nurse's responsibility.
Mwose J.
Clin Nurse Spec. 2010 Jul-Aug;24(4):185-6. doi: 10.1097/NUR.0b013e3181e3609a. No abstract available.
- PMID:
- 20526115
Details of each submission
From Labcorp Genetics (formerly Invitae), Labcorp, SCV000077030.11
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (13) |
Description
This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1833 of the BRCA1 protein (p.Val1833Met). This variant is present in population databases (rs80357268, gnomAD 0.0009%). This missense change has been observed in individual(s) with breast and/or ovarian cancer (PMID: 10923033, 12142080, 16284991, 23536787; Invitae). It has also been observed to segregate with disease in related individuals. This variant is also known as 5616G>A. ClinVar contains an entry for this variant (Variation ID: 55598). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is expected to disrupt BRCA1 function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects BRCA1 function (PMID: 15004537, 17493881, 18992264, 20378548, 20516115, 20526115, 28781887, 30209399). For these reasons, this variant has been classified as Pathogenic.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From GeneKor MSA, SCV000693500.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
This sequence change replaces Valine with Methionine at codon 1833 of the BRCA1 protein. The Valine residue is highly conserved among species and it is located within the BRCT domain that is important for BRCA1 function. There is a small physiochemical difference between Valine and Methionine (Grantham Score 21). This variant is also known as 5616G>A and it has been reported in the literature in individuals and families with breast and/or ovarian cancer, with some evidence of segregation with disease in a single family (PMID: 23536787, 12142080). To our Knowledge, this variant is not present in population databases (rs80357268). The mutation database ClinVar contains entries for this variant (Variation ID: 55598). Algorithms developed to predict the effect of missense changes on protein structure and function suggest that this variant may be damaging to the protein. These predictions have been also confirmed by published functional studies. Experimental studies have shown that this missense change affects protein folding and stability, as well as functional activity of the BRCA1 protein (PMID: 18992264, 20378548).
# | 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 | not provided | not provided | not provided | not provided |
From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699266.3
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (18) |
Description
Variant summary: BRCA1 c.5497G>A (p.Val1833Met) results in a conservative amino acid change located in the BRCT domain (IPR001357) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. Several in silico studies also predict a deleterious outcome for the variant (Carvalho_2009, Karchin_2007, Pavlicek_2004, Zhang_1998). Functional studies are in agreement with these predictions demonstrating that although the variant confers normal binding activity, it results in considerably reduced transcriptional activity and destabilizes the protein (Carvalho_2009, Fernandes_2019, Lee_2010, Rowling_2010, Woods_2016). At least one functional study reports experimental evidence evaluating an impact on protein function a damaging effect of this variant on homology directed repair (HDR) activity (e.g. Findlay_2018). HDR assays qualify as a recognized gold standard on the basis of updated guidance provided by the ClinGen Sequence Variant Interpretation (SVI) working group. The variant allele was found at a frequency of 4e-06 in 251228 control chromosomes (gnomAD). c.5497G>A has been reported in the literature in multiple individuals affected with Hereditary Breast and Ovarian Cancer, including at least one family with evidence of co-segregation with disease (Fostira_2019, Judkins_2005, Kotoula_2017, Pal_2005, Stavropoulou_2013). These data indicate that the variant is very likely to be associated with disease. Eight ClinVar submitters (evaluation after 2014) cite the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Oct 8, 2024