NM_007294.4(BRCA1):c.4999A>G (p.Lys1667Glu) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 7, 2021
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- 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:
- RCV001229350.5
Allele description [Variation Report for NM_007294.4(BRCA1):c.4999A>G (p.Lys1667Glu)]
NM_007294.4(BRCA1):c.4999A>G (p.Lys1667Glu)
- 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.4999A>G (p.Lys1667Glu)
- HGVS:
- NC_000017.11:g.43067683T>C
- NG_005905.2:g.150301A>G
- NM_001407571.1:c.4786A>G
- NM_001407581.1:c.5065A>G
- NM_001407582.1:c.5065A>G
- NM_001407583.1:c.5062A>G
- NM_001407585.1:c.5062A>G
- NM_001407587.1:c.5062A>G
- NM_001407590.1:c.5059A>G
- NM_001407591.1:c.5059A>G
- NM_001407593.1:c.4999A>G
- NM_001407594.1:c.4999A>G
- NM_001407596.1:c.4999A>G
- NM_001407597.1:c.4999A>G
- NM_001407598.1:c.4999A>G
- NM_001407602.1:c.4999A>G
- NM_001407603.1:c.4999A>G
- NM_001407605.1:c.4999A>G
- NM_001407610.1:c.4996A>G
- NM_001407611.1:c.4996A>G
- NM_001407612.1:c.4996A>G
- NM_001407613.1:c.4996A>G
- NM_001407614.1:c.4996A>G
- NM_001407615.1:c.4996A>G
- NM_001407616.1:c.4996A>G
- NM_001407617.1:c.4996A>G
- NM_001407618.1:c.4996A>G
- NM_001407619.1:c.4996A>G
- NM_001407620.1:c.4996A>G
- NM_001407621.1:c.4996A>G
- NM_001407622.1:c.4996A>G
- NM_001407623.1:c.4996A>G
- NM_001407624.1:c.4996A>G
- NM_001407625.1:c.4996A>G
- NM_001407626.1:c.4996A>G
- NM_001407627.1:c.4993A>G
- NM_001407628.1:c.4993A>G
- NM_001407629.1:c.4993A>G
- NM_001407630.1:c.4993A>G
- NM_001407631.1:c.4993A>G
- NM_001407632.1:c.4993A>G
- NM_001407633.1:c.4993A>G
- NM_001407634.1:c.4993A>G
- NM_001407635.1:c.4993A>G
- NM_001407636.1:c.4993A>G
- NM_001407637.1:c.4993A>G
- NM_001407638.1:c.4993A>G
- NM_001407639.1:c.4993A>G
- NM_001407640.1:c.4993A>G
- NM_001407641.1:c.4993A>G
- NM_001407642.1:c.4993A>G
- NM_001407644.1:c.4990A>G
- NM_001407645.1:c.4990A>G
- NM_001407646.1:c.4987A>G
- NM_001407647.1:c.4984A>G
- NM_001407648.1:c.4942A>G
- NM_001407649.1:c.4939A>G
- NM_001407652.1:c.4999A>G
- NM_001407653.1:c.4921A>G
- NM_001407654.1:c.4921A>G
- NM_001407655.1:c.4921A>G
- NM_001407656.1:c.4918A>G
- NM_001407657.1:c.4918A>G
- NM_001407658.1:c.4918A>G
- NM_001407659.1:c.4915A>G
- NM_001407660.1:c.4915A>G
- NM_001407661.1:c.4915A>G
- NM_001407662.1:c.4915A>G
- NM_001407663.1:c.4915A>G
- NM_001407664.1:c.4876A>G
- NM_001407665.1:c.4876A>G
- NM_001407666.1:c.4876A>G
- NM_001407667.1:c.4876A>G
- NM_001407668.1:c.4876A>G
- NM_001407669.1:c.4876A>G
- NM_001407670.1:c.4873A>G
- NM_001407671.1:c.4873A>G
- NM_001407672.1:c.4873A>G
- NM_001407673.1:c.4873A>G
- NM_001407674.1:c.4873A>G
- NM_001407675.1:c.4873A>G
- NM_001407676.1:c.4873A>G
- NM_001407677.1:c.4873A>G
- NM_001407678.1:c.4873A>G
- NM_001407679.1:c.4873A>G
- NM_001407680.1:c.4873A>G
- NM_001407681.1:c.4870A>G
- NM_001407682.1:c.4870A>G
- NM_001407683.1:c.4870A>G
- NM_001407684.1:c.4999A>G
- NM_001407685.1:c.4870A>G
- NM_001407686.1:c.4870A>G
- NM_001407687.1:c.4870A>G
- NM_001407688.1:c.4870A>G
- NM_001407689.1:c.4870A>G
- NM_001407690.1:c.4867A>G
- NM_001407691.1:c.4867A>G
- NM_001407692.1:c.4858A>G
- NM_001407694.1:c.4858A>G
- NM_001407695.1:c.4858A>G
- NM_001407696.1:c.4858A>G
- NM_001407697.1:c.4858A>G
- NM_001407698.1:c.4858A>G
- NM_001407724.1:c.4858A>G
- NM_001407725.1:c.4858A>G
- NM_001407726.1:c.4858A>G
- NM_001407727.1:c.4858A>G
- NM_001407728.1:c.4858A>G
- NM_001407729.1:c.4858A>G
- NM_001407730.1:c.4858A>G
- NM_001407731.1:c.4858A>G
- NM_001407732.1:c.4855A>G
- NM_001407733.1:c.4855A>G
- NM_001407734.1:c.4855A>G
- NM_001407735.1:c.4855A>G
- NM_001407736.1:c.4855A>G
- NM_001407737.1:c.4855A>G
- NM_001407738.1:c.4855A>G
- NM_001407739.1:c.4855A>G
- NM_001407740.1:c.4855A>G
- NM_001407741.1:c.4855A>G
- NM_001407742.1:c.4855A>G
- NM_001407743.1:c.4855A>G
- NM_001407744.1:c.4855A>G
- NM_001407745.1:c.4855A>G
- NM_001407746.1:c.4855A>G
- NM_001407747.1:c.4855A>G
- NM_001407748.1:c.4855A>G
- NM_001407749.1:c.4855A>G
- NM_001407750.1:c.4855A>G
- NM_001407751.1:c.4855A>G
- NM_001407752.1:c.4855A>G
- NM_001407838.1:c.4852A>G
- NM_001407839.1:c.4852A>G
- NM_001407841.1:c.4852A>G
- NM_001407842.1:c.4852A>G
- NM_001407843.1:c.4852A>G
- NM_001407844.1:c.4852A>G
- NM_001407845.1:c.4852A>G
- NM_001407846.1:c.4852A>G
- NM_001407847.1:c.4852A>G
- NM_001407848.1:c.4852A>G
- NM_001407849.1:c.4852A>G
- NM_001407850.1:c.4852A>G
- NM_001407851.1:c.4852A>G
- NM_001407852.1:c.4852A>G
- NM_001407853.1:c.4852A>G
- NM_001407854.1:c.4999A>G
- NM_001407858.1:c.4996A>G
- NM_001407859.1:c.4996A>G
- NM_001407860.1:c.4996A>G
- NM_001407861.1:c.4993A>G
- NM_001407862.1:c.4798A>G
- NM_001407863.1:c.4873A>G
- NM_001407874.1:c.4792A>G
- NM_001407875.1:c.4792A>G
- NM_001407879.1:c.4789A>G
- NM_001407881.1:c.4789A>G
- NM_001407882.1:c.4789A>G
- NM_001407884.1:c.4789A>G
- NM_001407885.1:c.4789A>G
- NM_001407886.1:c.4789A>G
- NM_001407887.1:c.4789A>G
- NM_001407889.1:c.4789A>G
- NM_001407894.1:c.4786A>G
- NM_001407895.1:c.4786A>G
- NM_001407896.1:c.4786A>G
- NM_001407897.1:c.4786A>G
- NM_001407898.1:c.4786A>G
- NM_001407899.1:c.4786A>G
- NM_001407900.1:c.4786A>G
- NM_001407902.1:c.4786A>G
- NM_001407904.1:c.4786A>G
- NM_001407906.1:c.4786A>G
- NM_001407907.1:c.4786A>G
- NM_001407908.1:c.4786A>G
- NM_001407909.1:c.4786A>G
- NM_001407910.1:c.4786A>G
- NM_001407915.1:c.4783A>G
- NM_001407916.1:c.4783A>G
- NM_001407917.1:c.4783A>G
- NM_001407918.1:c.4783A>G
- NM_001407919.1:c.4876A>G
- NM_001407920.1:c.4735A>G
- NM_001407921.1:c.4735A>G
- NM_001407922.1:c.4735A>G
- NM_001407923.1:c.4735A>G
- NM_001407924.1:c.4735A>G
- NM_001407925.1:c.4735A>G
- NM_001407926.1:c.4735A>G
- NM_001407927.1:c.4732A>G
- NM_001407928.1:c.4732A>G
- NM_001407929.1:c.4732A>G
- NM_001407930.1:c.4732A>G
- NM_001407931.1:c.4732A>G
- NM_001407932.1:c.4732A>G
- NM_001407933.1:c.4732A>G
- NM_001407934.1:c.4729A>G
- NM_001407935.1:c.4729A>G
- NM_001407936.1:c.4729A>G
- NM_001407937.1:c.4876A>G
- NM_001407938.1:c.4876A>G
- NM_001407939.1:c.4873A>G
- NM_001407940.1:c.4873A>G
- NM_001407941.1:c.4870A>G
- NM_001407942.1:c.4858A>G
- NM_001407943.1:c.4855A>G
- NM_001407944.1:c.4855A>G
- NM_001407945.1:c.4855A>G
- NM_001407946.1:c.4666A>G
- NM_001407947.1:c.4666A>G
- NM_001407948.1:c.4666A>G
- NM_001407949.1:c.4666A>G
- NM_001407950.1:c.4663A>G
- NM_001407951.1:c.4663A>G
- NM_001407952.1:c.4663A>G
- NM_001407953.1:c.4663A>G
- NM_001407954.1:c.4663A>G
- NM_001407955.1:c.4663A>G
- NM_001407956.1:c.4660A>G
- NM_001407957.1:c.4660A>G
- NM_001407958.1:c.4660A>G
- NM_001407959.1:c.4618A>G
- NM_001407960.1:c.4615A>G
- NM_001407962.1:c.4615A>G
- NM_001407963.1:c.4612A>G
- NM_001407964.1:c.4537A>G
- NM_001407965.1:c.4492A>G
- NM_001407966.1:c.4111A>G
- NM_001407967.1:c.4108A>G
- NM_001407968.1:c.2395A>G
- NM_001407969.1:c.2392A>G
- NM_001407970.1:c.1756A>G
- NM_001407971.1:c.1756A>G
- NM_001407972.1:c.1753A>G
- NM_001407973.1:c.1690A>G
- NM_001407974.1:c.1690A>G
- NM_001407975.1:c.1690A>G
- NM_001407976.1:c.1690A>G
- NM_001407977.1:c.1690A>G
- NM_001407978.1:c.1690A>G
- NM_001407979.1:c.1687A>G
- NM_001407980.1:c.1687A>G
- NM_001407981.1:c.1687A>G
- NM_001407982.1:c.1687A>G
- NM_001407983.1:c.1687A>G
- NM_001407984.1:c.1687A>G
- NM_001407985.1:c.1687A>G
- NM_001407986.1:c.1687A>G
- NM_001407990.1:c.1687A>G
- NM_001407991.1:c.1687A>G
- NM_001407992.1:c.1687A>G
- NM_001407993.1:c.1687A>G
- NM_001408392.1:c.1684A>G
- NM_001408396.1:c.1684A>G
- NM_001408397.1:c.1684A>G
- NM_001408398.1:c.1684A>G
- NM_001408399.1:c.1684A>G
- NM_001408400.1:c.1684A>G
- NM_001408401.1:c.1684A>G
- NM_001408402.1:c.1684A>G
- NM_001408403.1:c.1684A>G
- NM_001408404.1:c.1684A>G
- NM_001408406.1:c.1681A>G
- NM_001408407.1:c.1681A>G
- NM_001408408.1:c.1681A>G
- NM_001408409.1:c.1678A>G
- NM_001408410.1:c.1615A>G
- NM_001408411.1:c.1612A>G
- NM_001408412.1:c.1609A>G
- NM_001408413.1:c.1609A>G
- NM_001408414.1:c.1609A>G
- NM_001408415.1:c.1609A>G
- NM_001408416.1:c.1609A>G
- NM_001408418.1:c.1573A>G
- NM_001408419.1:c.1573A>G
- NM_001408420.1:c.1573A>G
- NM_001408421.1:c.1570A>G
- NM_001408422.1:c.1570A>G
- NM_001408423.1:c.1570A>G
- NM_001408424.1:c.1570A>G
- NM_001408425.1:c.1567A>G
- NM_001408426.1:c.1567A>G
- NM_001408427.1:c.1567A>G
- NM_001408428.1:c.1567A>G
- NM_001408429.1:c.1567A>G
- NM_001408430.1:c.1567A>G
- NM_001408431.1:c.1567A>G
- NM_001408432.1:c.1564A>G
- NM_001408433.1:c.1564A>G
- NM_001408434.1:c.1564A>G
- NM_001408435.1:c.1564A>G
- NM_001408436.1:c.1564A>G
- NM_001408437.1:c.1564A>G
- NM_001408438.1:c.1564A>G
- NM_001408439.1:c.1564A>G
- NM_001408440.1:c.1564A>G
- NM_001408441.1:c.1564A>G
- NM_001408442.1:c.1564A>G
- NM_001408443.1:c.1564A>G
- NM_001408444.1:c.1564A>G
- NM_001408445.1:c.1561A>G
- NM_001408446.1:c.1561A>G
- NM_001408447.1:c.1561A>G
- NM_001408448.1:c.1561A>G
- NM_001408450.1:c.1561A>G
- NM_001408451.1:c.1555A>G
- NM_001408452.1:c.1549A>G
- NM_001408453.1:c.1549A>G
- NM_001408454.1:c.1549A>G
- NM_001408455.1:c.1549A>G
- NM_001408456.1:c.1549A>G
- NM_001408457.1:c.1549A>G
- NM_001408458.1:c.1546A>G
- NM_001408459.1:c.1546A>G
- NM_001408460.1:c.1546A>G
- NM_001408461.1:c.1546A>G
- NM_001408462.1:c.1546A>G
- NM_001408463.1:c.1546A>G
- NM_001408464.1:c.1546A>G
- NM_001408465.1:c.1546A>G
- NM_001408466.1:c.1546A>G
- NM_001408467.1:c.1546A>G
- NM_001408468.1:c.1543A>G
- NM_001408469.1:c.1543A>G
- NM_001408470.1:c.1543A>G
- NM_001408472.1:c.1687A>G
- NM_001408473.1:c.1684A>G
- NM_001408474.1:c.1489A>G
- NM_001408475.1:c.1486A>G
- NM_001408476.1:c.1486A>G
- NM_001408478.1:c.1480A>G
- NM_001408479.1:c.1480A>G
- NM_001408480.1:c.1480A>G
- NM_001408481.1:c.1477A>G
- NM_001408482.1:c.1477A>G
- NM_001408483.1:c.1477A>G
- NM_001408484.1:c.1477A>G
- NM_001408485.1:c.1477A>G
- NM_001408489.1:c.1477A>G
- NM_001408490.1:c.1477A>G
- NM_001408491.1:c.1477A>G
- NM_001408492.1:c.1474A>G
- NM_001408493.1:c.1474A>G
- NM_001408494.1:c.1450A>G
- NM_001408495.1:c.1444A>G
- NM_001408496.1:c.1426A>G
- NM_001408497.1:c.1426A>G
- NM_001408498.1:c.1426A>G
- NM_001408499.1:c.1426A>G
- NM_001408500.1:c.1426A>G
- NM_001408501.1:c.1426A>G
- NM_001408502.1:c.1423A>G
- NM_001408503.1:c.1423A>G
- NM_001408504.1:c.1423A>G
- NM_001408505.1:c.1420A>G
- NM_001408506.1:c.1363A>G
- NM_001408507.1:c.1360A>G
- NM_001408508.1:c.1351A>G
- NM_001408509.1:c.1348A>G
- NM_001408510.1:c.1309A>G
- NM_001408511.1:c.1306A>G
- NM_001408512.1:c.1186A>G
- NM_001408513.1:c.1159A>G
- NM_007294.4:c.4999A>GMANE SELECT
- NM_007297.4:c.4858A>G
- NM_007298.4:c.1687A>G
- NM_007299.4:c.1687A>G
- NM_007300.4:c.5062A>G
- NM_007304.2:c.1687A>G
- NP_001394500.1:p.Lys1596Glu
- NP_001394510.1:p.Lys1689Glu
- NP_001394511.1:p.Lys1689Glu
- NP_001394512.1:p.Lys1688Glu
- NP_001394514.1:p.Lys1688Glu
- NP_001394516.1:p.Lys1688Glu
- NP_001394519.1:p.Lys1687Glu
- NP_001394520.1:p.Lys1687Glu
- NP_001394522.1:p.Lys1667Glu
- NP_001394523.1:p.Lys1667Glu
- NP_001394525.1:p.Lys1667Glu
- NP_001394526.1:p.Lys1667Glu
- NP_001394527.1:p.Lys1667Glu
- NP_001394531.1:p.Lys1667Glu
- NP_001394532.1:p.Lys1667Glu
- NP_001394534.1:p.Lys1667Glu
- NP_001394539.1:p.Lys1666Glu
- NP_001394540.1:p.Lys1666Glu
- NP_001394541.1:p.Lys1666Glu
- NP_001394542.1:p.Lys1666Glu
- NP_001394543.1:p.Lys1666Glu
- NP_001394544.1:p.Lys1666Glu
- NP_001394545.1:p.Lys1666Glu
- NP_001394546.1:p.Lys1666Glu
- NP_001394547.1:p.Lys1666Glu
- NP_001394548.1:p.Lys1666Glu
- NP_001394549.1:p.Lys1666Glu
- NP_001394550.1:p.Lys1666Glu
- NP_001394551.1:p.Lys1666Glu
- NP_001394552.1:p.Lys1666Glu
- NP_001394553.1:p.Lys1666Glu
- NP_001394554.1:p.Lys1666Glu
- NP_001394555.1:p.Lys1666Glu
- NP_001394556.1:p.Lys1665Glu
- NP_001394557.1:p.Lys1665Glu
- NP_001394558.1:p.Lys1665Glu
- NP_001394559.1:p.Lys1665Glu
- NP_001394560.1:p.Lys1665Glu
- NP_001394561.1:p.Lys1665Glu
- NP_001394562.1:p.Lys1665Glu
- NP_001394563.1:p.Lys1665Glu
- NP_001394564.1:p.Lys1665Glu
- NP_001394565.1:p.Lys1665Glu
- NP_001394566.1:p.Lys1665Glu
- NP_001394567.1:p.Lys1665Glu
- NP_001394568.1:p.Lys1665Glu
- NP_001394569.1:p.Lys1665Glu
- NP_001394570.1:p.Lys1665Glu
- NP_001394571.1:p.Lys1665Glu
- NP_001394573.1:p.Lys1664Glu
- NP_001394574.1:p.Lys1664Glu
- NP_001394575.1:p.Lys1663Glu
- NP_001394576.1:p.Lys1662Glu
- NP_001394577.1:p.Lys1648Glu
- NP_001394578.1:p.Lys1647Glu
- NP_001394581.1:p.Lys1667Glu
- NP_001394582.1:p.Lys1641Glu
- NP_001394583.1:p.Lys1641Glu
- NP_001394584.1:p.Lys1641Glu
- NP_001394585.1:p.Lys1640Glu
- NP_001394586.1:p.Lys1640Glu
- NP_001394587.1:p.Lys1640Glu
- NP_001394588.1:p.Lys1639Glu
- NP_001394589.1:p.Lys1639Glu
- NP_001394590.1:p.Lys1639Glu
- NP_001394591.1:p.Lys1639Glu
- NP_001394592.1:p.Lys1639Glu
- NP_001394593.1:p.Lys1626Glu
- NP_001394594.1:p.Lys1626Glu
- NP_001394595.1:p.Lys1626Glu
- NP_001394596.1:p.Lys1626Glu
- NP_001394597.1:p.Lys1626Glu
- NP_001394598.1:p.Lys1626Glu
- NP_001394599.1:p.Lys1625Glu
- NP_001394600.1:p.Lys1625Glu
- NP_001394601.1:p.Lys1625Glu
- NP_001394602.1:p.Lys1625Glu
- NP_001394603.1:p.Lys1625Glu
- NP_001394604.1:p.Lys1625Glu
- NP_001394605.1:p.Lys1625Glu
- NP_001394606.1:p.Lys1625Glu
- NP_001394607.1:p.Lys1625Glu
- NP_001394608.1:p.Lys1625Glu
- NP_001394609.1:p.Lys1625Glu
- NP_001394610.1:p.Lys1624Glu
- NP_001394611.1:p.Lys1624Glu
- NP_001394612.1:p.Lys1624Glu
- NP_001394613.1:p.Lys1667Glu
- NP_001394614.1:p.Lys1624Glu
- NP_001394615.1:p.Lys1624Glu
- NP_001394616.1:p.Lys1624Glu
- NP_001394617.1:p.Lys1624Glu
- NP_001394618.1:p.Lys1624Glu
- NP_001394619.1:p.Lys1623Glu
- NP_001394620.1:p.Lys1623Glu
- NP_001394621.1:p.Lys1620Glu
- NP_001394623.1:p.Lys1620Glu
- NP_001394624.1:p.Lys1620Glu
- NP_001394625.1:p.Lys1620Glu
- NP_001394626.1:p.Lys1620Glu
- NP_001394627.1:p.Lys1620Glu
- NP_001394653.1:p.Lys1620Glu
- NP_001394654.1:p.Lys1620Glu
- NP_001394655.1:p.Lys1620Glu
- NP_001394656.1:p.Lys1620Glu
- NP_001394657.1:p.Lys1620Glu
- NP_001394658.1:p.Lys1620Glu
- NP_001394659.1:p.Lys1620Glu
- NP_001394660.1:p.Lys1620Glu
- NP_001394661.1:p.Lys1619Glu
- NP_001394662.1:p.Lys1619Glu
- NP_001394663.1:p.Lys1619Glu
- NP_001394664.1:p.Lys1619Glu
- NP_001394665.1:p.Lys1619Glu
- NP_001394666.1:p.Lys1619Glu
- NP_001394667.1:p.Lys1619Glu
- NP_001394668.1:p.Lys1619Glu
- NP_001394669.1:p.Lys1619Glu
- NP_001394670.1:p.Lys1619Glu
- NP_001394671.1:p.Lys1619Glu
- NP_001394672.1:p.Lys1619Glu
- NP_001394673.1:p.Lys1619Glu
- NP_001394674.1:p.Lys1619Glu
- NP_001394675.1:p.Lys1619Glu
- NP_001394676.1:p.Lys1619Glu
- NP_001394677.1:p.Lys1619Glu
- NP_001394678.1:p.Lys1619Glu
- NP_001394679.1:p.Lys1619Glu
- NP_001394680.1:p.Lys1619Glu
- NP_001394681.1:p.Lys1619Glu
- NP_001394767.1:p.Lys1618Glu
- NP_001394768.1:p.Lys1618Glu
- NP_001394770.1:p.Lys1618Glu
- NP_001394771.1:p.Lys1618Glu
- NP_001394772.1:p.Lys1618Glu
- NP_001394773.1:p.Lys1618Glu
- NP_001394774.1:p.Lys1618Glu
- NP_001394775.1:p.Lys1618Glu
- NP_001394776.1:p.Lys1618Glu
- NP_001394777.1:p.Lys1618Glu
- NP_001394778.1:p.Lys1618Glu
- NP_001394779.1:p.Lys1618Glu
- NP_001394780.1:p.Lys1618Glu
- NP_001394781.1:p.Lys1618Glu
- NP_001394782.1:p.Lys1618Glu
- NP_001394783.1:p.Lys1667Glu
- NP_001394787.1:p.Lys1666Glu
- NP_001394788.1:p.Lys1666Glu
- NP_001394789.1:p.Lys1666Glu
- NP_001394790.1:p.Lys1665Glu
- NP_001394791.1:p.Lys1600Glu
- NP_001394792.1:p.Lys1625Glu
- NP_001394803.1:p.Lys1598Glu
- NP_001394804.1:p.Lys1598Glu
- NP_001394808.1:p.Lys1597Glu
- NP_001394810.1:p.Lys1597Glu
- NP_001394811.1:p.Lys1597Glu
- NP_001394813.1:p.Lys1597Glu
- NP_001394814.1:p.Lys1597Glu
- NP_001394815.1:p.Lys1597Glu
- NP_001394816.1:p.Lys1597Glu
- NP_001394818.1:p.Lys1597Glu
- NP_001394823.1:p.Lys1596Glu
- NP_001394824.1:p.Lys1596Glu
- NP_001394825.1:p.Lys1596Glu
- NP_001394826.1:p.Lys1596Glu
- NP_001394827.1:p.Lys1596Glu
- NP_001394828.1:p.Lys1596Glu
- NP_001394829.1:p.Lys1596Glu
- NP_001394831.1:p.Lys1596Glu
- NP_001394833.1:p.Lys1596Glu
- NP_001394835.1:p.Lys1596Glu
- NP_001394836.1:p.Lys1596Glu
- NP_001394837.1:p.Lys1596Glu
- NP_001394838.1:p.Lys1596Glu
- NP_001394839.1:p.Lys1596Glu
- NP_001394844.1:p.Lys1595Glu
- NP_001394845.1:p.Lys1595Glu
- NP_001394846.1:p.Lys1595Glu
- NP_001394847.1:p.Lys1595Glu
- NP_001394848.1:p.Lys1626Glu
- NP_001394849.1:p.Lys1579Glu
- NP_001394850.1:p.Lys1579Glu
- NP_001394851.1:p.Lys1579Glu
- NP_001394852.1:p.Lys1579Glu
- NP_001394853.1:p.Lys1579Glu
- NP_001394854.1:p.Lys1579Glu
- NP_001394855.1:p.Lys1579Glu
- NP_001394856.1:p.Lys1578Glu
- NP_001394857.1:p.Lys1578Glu
- NP_001394858.1:p.Lys1578Glu
- NP_001394859.1:p.Lys1578Glu
- NP_001394860.1:p.Lys1578Glu
- NP_001394861.1:p.Lys1578Glu
- NP_001394862.1:p.Lys1578Glu
- NP_001394863.1:p.Lys1577Glu
- NP_001394864.1:p.Lys1577Glu
- NP_001394865.1:p.Lys1577Glu
- NP_001394866.1:p.Lys1626Glu
- NP_001394867.1:p.Lys1626Glu
- NP_001394868.1:p.Lys1625Glu
- NP_001394869.1:p.Lys1625Glu
- NP_001394870.1:p.Lys1624Glu
- NP_001394871.1:p.Lys1620Glu
- NP_001394872.1:p.Lys1619Glu
- NP_001394873.1:p.Lys1619Glu
- NP_001394874.1:p.Lys1619Glu
- NP_001394875.1:p.Lys1556Glu
- NP_001394876.1:p.Lys1556Glu
- NP_001394877.1:p.Lys1556Glu
- NP_001394878.1:p.Lys1556Glu
- NP_001394879.1:p.Lys1555Glu
- NP_001394880.1:p.Lys1555Glu
- NP_001394881.1:p.Lys1555Glu
- NP_001394882.1:p.Lys1555Glu
- NP_001394883.1:p.Lys1555Glu
- NP_001394884.1:p.Lys1555Glu
- NP_001394885.1:p.Lys1554Glu
- NP_001394886.1:p.Lys1554Glu
- NP_001394887.1:p.Lys1554Glu
- NP_001394888.1:p.Lys1540Glu
- NP_001394889.1:p.Lys1539Glu
- NP_001394891.1:p.Lys1539Glu
- NP_001394892.1:p.Lys1538Glu
- NP_001394893.1:p.Lys1513Glu
- NP_001394894.1:p.Lys1498Glu
- NP_001394895.1:p.Lys1371Glu
- NP_001394896.1:p.Lys1370Glu
- NP_001394897.1:p.Lys799Glu
- NP_001394898.1:p.Lys798Glu
- NP_001394899.1:p.Lys586Glu
- NP_001394900.1:p.Lys586Glu
- NP_001394901.1:p.Lys585Glu
- NP_001394902.1:p.Lys564Glu
- NP_001394903.1:p.Lys564Glu
- NP_001394904.1:p.Lys564Glu
- NP_001394905.1:p.Lys564Glu
- NP_001394906.1:p.Lys564Glu
- NP_001394907.1:p.Lys564Glu
- NP_001394908.1:p.Lys563Glu
- NP_001394909.1:p.Lys563Glu
- NP_001394910.1:p.Lys563Glu
- NP_001394911.1:p.Lys563Glu
- NP_001394912.1:p.Lys563Glu
- NP_001394913.1:p.Lys563Glu
- NP_001394914.1:p.Lys563Glu
- NP_001394915.1:p.Lys563Glu
- NP_001394919.1:p.Lys563Glu
- NP_001394920.1:p.Lys563Glu
- NP_001394921.1:p.Lys563Glu
- NP_001394922.1:p.Lys563Glu
- NP_001395321.1:p.Lys562Glu
- NP_001395325.1:p.Lys562Glu
- NP_001395326.1:p.Lys562Glu
- NP_001395327.1:p.Lys562Glu
- NP_001395328.1:p.Lys562Glu
- NP_001395329.1:p.Lys562Glu
- NP_001395330.1:p.Lys562Glu
- NP_001395331.1:p.Lys562Glu
- NP_001395332.1:p.Lys562Glu
- NP_001395333.1:p.Lys562Glu
- NP_001395335.1:p.Lys561Glu
- NP_001395336.1:p.Lys561Glu
- NP_001395337.1:p.Lys561Glu
- NP_001395338.1:p.Lys560Glu
- NP_001395339.1:p.Lys539Glu
- NP_001395340.1:p.Lys538Glu
- NP_001395341.1:p.Lys537Glu
- NP_001395342.1:p.Lys537Glu
- NP_001395343.1:p.Lys537Glu
- NP_001395344.1:p.Lys537Glu
- NP_001395345.1:p.Lys537Glu
- NP_001395347.1:p.Lys525Glu
- NP_001395348.1:p.Lys525Glu
- NP_001395349.1:p.Lys525Glu
- NP_001395350.1:p.Lys524Glu
- NP_001395351.1:p.Lys524Glu
- NP_001395352.1:p.Lys524Glu
- NP_001395353.1:p.Lys524Glu
- NP_001395354.1:p.Lys523Glu
- NP_001395355.1:p.Lys523Glu
- NP_001395356.1:p.Lys523Glu
- NP_001395357.1:p.Lys523Glu
- NP_001395358.1:p.Lys523Glu
- NP_001395359.1:p.Lys523Glu
- NP_001395360.1:p.Lys523Glu
- NP_001395361.1:p.Lys522Glu
- NP_001395362.1:p.Lys522Glu
- NP_001395363.1:p.Lys522Glu
- NP_001395364.1:p.Lys522Glu
- NP_001395365.1:p.Lys522Glu
- NP_001395366.1:p.Lys522Glu
- NP_001395367.1:p.Lys522Glu
- NP_001395368.1:p.Lys522Glu
- NP_001395369.1:p.Lys522Glu
- NP_001395370.1:p.Lys522Glu
- NP_001395371.1:p.Lys522Glu
- NP_001395372.1:p.Lys522Glu
- NP_001395373.1:p.Lys522Glu
- NP_001395374.1:p.Lys521Glu
- NP_001395375.1:p.Lys521Glu
- NP_001395376.1:p.Lys521Glu
- NP_001395377.1:p.Lys521Glu
- NP_001395379.1:p.Lys521Glu
- NP_001395380.1:p.Lys519Glu
- NP_001395381.1:p.Lys517Glu
- NP_001395382.1:p.Lys517Glu
- NP_001395383.1:p.Lys517Glu
- NP_001395384.1:p.Lys517Glu
- NP_001395385.1:p.Lys517Glu
- NP_001395386.1:p.Lys517Glu
- NP_001395387.1:p.Lys516Glu
- NP_001395388.1:p.Lys516Glu
- NP_001395389.1:p.Lys516Glu
- NP_001395390.1:p.Lys516Glu
- NP_001395391.1:p.Lys516Glu
- NP_001395392.1:p.Lys516Glu
- NP_001395393.1:p.Lys516Glu
- NP_001395394.1:p.Lys516Glu
- NP_001395395.1:p.Lys516Glu
- NP_001395396.1:p.Lys516Glu
- NP_001395397.1:p.Lys515Glu
- NP_001395398.1:p.Lys515Glu
- NP_001395399.1:p.Lys515Glu
- NP_001395401.1:p.Lys563Glu
- NP_001395402.1:p.Lys562Glu
- NP_001395403.1:p.Lys497Glu
- NP_001395404.1:p.Lys496Glu
- NP_001395405.1:p.Lys496Glu
- NP_001395407.1:p.Lys494Glu
- NP_001395408.1:p.Lys494Glu
- NP_001395409.1:p.Lys494Glu
- NP_001395410.1:p.Lys493Glu
- NP_001395411.1:p.Lys493Glu
- NP_001395412.1:p.Lys493Glu
- NP_001395413.1:p.Lys493Glu
- NP_001395414.1:p.Lys493Glu
- NP_001395418.1:p.Lys493Glu
- NP_001395419.1:p.Lys493Glu
- NP_001395420.1:p.Lys493Glu
- NP_001395421.1:p.Lys492Glu
- NP_001395422.1:p.Lys492Glu
- NP_001395423.1:p.Lys484Glu
- NP_001395424.1:p.Lys482Glu
- NP_001395425.1:p.Lys476Glu
- NP_001395426.1:p.Lys476Glu
- NP_001395427.1:p.Lys476Glu
- NP_001395428.1:p.Lys476Glu
- NP_001395429.1:p.Lys476Glu
- NP_001395430.1:p.Lys476Glu
- NP_001395431.1:p.Lys475Glu
- NP_001395432.1:p.Lys475Glu
- NP_001395433.1:p.Lys475Glu
- NP_001395434.1:p.Lys474Glu
- NP_001395435.1:p.Lys455Glu
- NP_001395436.1:p.Lys454Glu
- NP_001395437.1:p.Lys451Glu
- NP_001395438.1:p.Lys450Glu
- NP_001395439.1:p.Lys437Glu
- NP_001395440.1:p.Lys436Glu
- NP_001395441.1:p.Lys396Glu
- NP_001395442.1:p.Lys387Glu
- NP_009225.1:p.Lys1667Glu
- NP_009225.1:p.Lys1667Glu
- NP_009228.2:p.Lys1620Glu
- NP_009229.2:p.Lys563Glu
- NP_009229.2:p.Lys563Glu
- NP_009230.2:p.Lys563Glu
- NP_009231.2:p.Lys1688Glu
- NP_009235.2:p.Lys563Glu
- LRG_292t1:c.4999A>G
- LRG_292:g.150301A>G
- LRG_292p1:p.Lys1667Glu
- NC_000017.10:g.41219700T>C
- NM_007294.3:c.4999A>G
- NM_007298.3:c.1687A>G
- NR_027676.2:n.5176A>G
This HGVS expression did not pass validation- Protein change:
- K1370E
- Links:
- dbSNP: rs80357204
- NCBI 1000 Genomes Browser:
- rs80357204
- Molecular consequence:
- NM_001407571.1:c.4786A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.5065A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.5065A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.5062A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.5062A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.5062A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.5059A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.5059A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.4999A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.4999A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.4999A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.4999A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.4999A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.4999A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.4999A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.4999A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.4996A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.4996A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.4996A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.4996A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.4996A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.4996A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.4996A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.4996A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.4996A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.4996A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.4996A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.4996A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.4996A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.4996A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.4996A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.4996A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.4996A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.4993A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.4993A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.4993A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.4993A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.4993A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.4993A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.4993A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.4993A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.4993A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.4993A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.4993A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.4993A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.4993A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.4993A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.4993A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.4993A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.4990A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.4990A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.4987A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.4984A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.4942A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.4939A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.4999A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.4921A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.4921A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.4921A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.4918A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.4918A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.4918A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.4915A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.4915A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.4915A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.4915A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.4915A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.4873A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.4873A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.4873A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.4873A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.4873A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.4873A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.4873A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.4873A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.4873A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.4873A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.4873A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.4870A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.4870A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.4870A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.4999A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.4870A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.4870A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.4870A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.4870A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.4870A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.4867A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.4867A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.4858A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.4858A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.4858A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.4858A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.4858A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.4858A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.4858A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.4858A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.4858A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.4858A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.4858A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.4858A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.4858A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.4858A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.4855A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.4855A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.4855A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.4855A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.4855A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.4855A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.4855A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.4855A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.4855A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.4855A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.4855A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.4855A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.4855A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.4855A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.4855A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.4855A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.4855A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.4855A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.4855A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.4855A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.4855A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.4852A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.4852A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.4852A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.4852A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.4852A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.4852A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.4852A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.4852A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.4852A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.4852A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.4852A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.4852A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.4852A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.4852A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.4852A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.4999A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.4996A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.4996A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.4996A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.4993A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.4798A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.4873A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.4792A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.4792A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.4789A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.4789A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.4789A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.4789A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.4789A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.4789A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.4789A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.4789A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.4786A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.4786A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.4786A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.4786A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.4786A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.4786A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.4786A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.4786A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.4786A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.4786A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.4786A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.4786A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.4786A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.4786A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.4783A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.4783A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.4783A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.4783A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.4732A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.4732A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.4732A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.4732A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.4732A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.4732A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.4732A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.4729A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.4729A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.4729A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.4873A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.4873A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.4870A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.4858A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.4855A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.4855A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.4855A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.4666A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.4666A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.4666A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.4666A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.4663A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.4663A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.4663A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.4663A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.4663A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.4663A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.4660A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.4660A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.4660A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.4618A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.4615A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.4615A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.4612A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.4537A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.4492A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.4111A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.4108A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.2395A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.2392A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.1756A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.1756A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.1753A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.1690A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.1690A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.1690A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.1690A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.1690A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.1690A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.1687A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.1687A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.1687A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.1687A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.1687A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.1687A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.1687A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.1687A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.1687A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.1687A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.1687A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.1687A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.1684A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.1684A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.1684A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.1684A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.1684A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.1684A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.1684A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.1684A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.1684A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.1684A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.1681A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.1681A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.1681A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.1678A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408410.1:c.1615A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.1612A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.1609A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.1609A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.1609A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.1609A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.1609A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.1573A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.1573A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.1573A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.1567A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.1567A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.1567A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.1567A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.1567A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.1567A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.1567A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.1564A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.1564A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.1564A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.1564A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.1564A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.1564A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.1564A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.1564A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.1564A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.1564A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.1564A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.1564A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.1564A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.1561A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.1561A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.1561A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.1561A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.1561A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408451.1:c.1555A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408452.1:c.1549A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408453.1:c.1549A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408454.1:c.1549A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408455.1:c.1549A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408456.1:c.1549A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408457.1:c.1549A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408458.1:c.1546A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408459.1:c.1546A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408460.1:c.1546A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408461.1:c.1546A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408462.1:c.1546A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408463.1:c.1546A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408464.1:c.1546A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408465.1:c.1546A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408466.1:c.1546A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408467.1:c.1546A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408468.1:c.1543A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408469.1:c.1543A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408470.1:c.1543A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408472.1:c.1687A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408473.1:c.1684A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.1489A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.1486A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.1486A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408478.1:c.1480A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408479.1:c.1480A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408480.1:c.1480A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408481.1:c.1477A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408482.1:c.1477A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408483.1:c.1477A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408484.1:c.1477A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408485.1:c.1477A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408489.1:c.1477A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408490.1:c.1477A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408491.1:c.1477A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408492.1:c.1474A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408493.1:c.1474A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.1450A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.1444A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408496.1:c.1426A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408497.1:c.1426A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408498.1:c.1426A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408499.1:c.1426A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408500.1:c.1426A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408501.1:c.1426A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408502.1:c.1423A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408503.1:c.1423A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408504.1:c.1423A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408505.1:c.1420A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408506.1:c.1363A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408507.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408508.1:c.1351A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408509.1:c.1348A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408510.1:c.1309A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408511.1:c.1306A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408512.1:c.1186A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408513.1:c.1159A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.4999A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.4858A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.1687A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007299.4:c.1687A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.5062A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.1687A>G - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.5176A>G - 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.4999A>G, a MISSENSE variant, produced a function score of 0.27, 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:
- 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
-
Mus musculus ret proto-oncogene (Ret), transcript variant 2, mRNA
Mus musculus ret proto-oncogene (Ret), transcript variant 2, mRNAgi|124256483|ref|NM_009050.2|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 |
---|---|---|---|---|---|---|
SCV001401792 | Invitae | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Uncertain significance (Nov 7, 2021) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Accurate classification of BRCA1 variants with saturation genome editing.
Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.
Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.
- PMID:
- 30209399
- PMCID:
- PMC6181777
Petitalot A, Dardillac E, Jacquet E, Nhiri N, Guirouilh-Barbat J, Julien P, Bouazzaoui I, Bonte D, Feunteun J, Schnell JA, Lafitte P, Aude JC, Noguès C, Rouleau E, Lidereau R, Lopez BS, Zinn-Justin S, Caputo SM; UNICANCER Genetic Group BRCA network..
Mol Cancer Res. 2019 Jan;17(1):54-69. doi: 10.1158/1541-7786.MCR-17-0357. Epub 2018 Sep 26.
- PMID:
- 30257991
Details of each submission
From Invitae, SCV001401792.5
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
Description
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies have shown that this missense change does not substantially affect BRCA1 function (PMID: 30209399, 30257991). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. ClinVar contains an entry for this variant (Variation ID: 489727). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 1667 of the BRCA1 protein (p.Lys1667Glu).
# | 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: Jul 15, 2024