NM_007294.4(BRCA1):c.5068A>T (p.Lys1690Ter) AND Breast-ovarian cancer, familial, susceptibility to, 1
- Germline classification:
- Pathogenic (6 submissions)
- Last evaluated:
- Sep 8, 2016
- Review status:
- 3 stars out of maximum of 4 starsreviewed by expert panel
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000031207.17
Allele description [Variation Report for NM_007294.4(BRCA1):c.5068A>T (p.Lys1690Ter)]
NM_007294.4(BRCA1):c.5068A>T (p.Lys1690Ter)
- 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.5068A>T (p.Lys1690Ter)
- HGVS:
- NC_000017.11:g.43067614T>A
- NG_005905.2:g.150370A>T
- NM_001407571.1:c.4855A>T
- NM_001407581.1:c.5134A>T
- NM_001407582.1:c.5134A>T
- NM_001407583.1:c.5131A>T
- NM_001407585.1:c.5131A>T
- NM_001407587.1:c.5131A>T
- NM_001407590.1:c.5128A>T
- NM_001407591.1:c.5128A>T
- NM_001407593.1:c.5068A>T
- NM_001407594.1:c.5068A>T
- NM_001407596.1:c.5068A>T
- NM_001407597.1:c.5068A>T
- NM_001407598.1:c.5068A>T
- NM_001407602.1:c.5068A>T
- NM_001407603.1:c.5068A>T
- NM_001407605.1:c.5068A>T
- NM_001407610.1:c.5065A>T
- NM_001407611.1:c.5065A>T
- NM_001407612.1:c.5065A>T
- NM_001407613.1:c.5065A>T
- NM_001407614.1:c.5065A>T
- NM_001407615.1:c.5065A>T
- NM_001407616.1:c.5065A>T
- NM_001407617.1:c.5065A>T
- NM_001407618.1:c.5065A>T
- NM_001407619.1:c.5065A>T
- NM_001407620.1:c.5065A>T
- NM_001407621.1:c.5065A>T
- NM_001407622.1:c.5065A>T
- NM_001407623.1:c.5065A>T
- NM_001407624.1:c.5065A>T
- NM_001407625.1:c.5065A>T
- NM_001407626.1:c.5065A>T
- NM_001407627.1:c.5062A>T
- NM_001407628.1:c.5062A>T
- NM_001407629.1:c.5062A>T
- NM_001407630.1:c.5062A>T
- NM_001407631.1:c.5062A>T
- NM_001407632.1:c.5062A>T
- NM_001407633.1:c.5062A>T
- NM_001407634.1:c.5062A>T
- NM_001407635.1:c.5062A>T
- NM_001407636.1:c.5062A>T
- NM_001407637.1:c.5062A>T
- NM_001407638.1:c.5062A>T
- NM_001407639.1:c.5062A>T
- NM_001407640.1:c.5062A>T
- NM_001407641.1:c.5062A>T
- NM_001407642.1:c.5062A>T
- NM_001407644.1:c.5059A>T
- NM_001407645.1:c.5059A>T
- NM_001407646.1:c.5056A>T
- NM_001407647.1:c.5053A>T
- NM_001407648.1:c.5011A>T
- NM_001407649.1:c.5008A>T
- NM_001407652.1:c.5068A>T
- NM_001407653.1:c.4990A>T
- NM_001407654.1:c.4990A>T
- NM_001407655.1:c.4990A>T
- NM_001407656.1:c.4987A>T
- NM_001407657.1:c.4987A>T
- NM_001407658.1:c.4987A>T
- NM_001407659.1:c.4984A>T
- NM_001407660.1:c.4984A>T
- NM_001407661.1:c.4984A>T
- NM_001407662.1:c.4984A>T
- NM_001407663.1:c.4984A>T
- NM_001407664.1:c.4945A>T
- NM_001407665.1:c.4945A>T
- NM_001407666.1:c.4945A>T
- NM_001407667.1:c.4945A>T
- NM_001407668.1:c.4945A>T
- NM_001407669.1:c.4945A>T
- NM_001407670.1:c.4942A>T
- NM_001407671.1:c.4942A>T
- NM_001407672.1:c.4942A>T
- NM_001407673.1:c.4942A>T
- NM_001407674.1:c.4942A>T
- NM_001407675.1:c.4942A>T
- NM_001407676.1:c.4942A>T
- NM_001407677.1:c.4942A>T
- NM_001407678.1:c.4942A>T
- NM_001407679.1:c.4942A>T
- NM_001407680.1:c.4942A>T
- NM_001407681.1:c.4939A>T
- NM_001407682.1:c.4939A>T
- NM_001407683.1:c.4939A>T
- NM_001407684.1:c.5068A>T
- NM_001407685.1:c.4939A>T
- NM_001407686.1:c.4939A>T
- NM_001407687.1:c.4939A>T
- NM_001407688.1:c.4939A>T
- NM_001407689.1:c.4939A>T
- NM_001407690.1:c.4936A>T
- NM_001407691.1:c.4936A>T
- NM_001407692.1:c.4927A>T
- NM_001407694.1:c.4927A>T
- NM_001407695.1:c.4927A>T
- NM_001407696.1:c.4927A>T
- NM_001407697.1:c.4927A>T
- NM_001407698.1:c.4927A>T
- NM_001407724.1:c.4927A>T
- NM_001407725.1:c.4927A>T
- NM_001407726.1:c.4927A>T
- NM_001407727.1:c.4927A>T
- NM_001407728.1:c.4927A>T
- NM_001407729.1:c.4927A>T
- NM_001407730.1:c.4927A>T
- NM_001407731.1:c.4927A>T
- NM_001407732.1:c.4924A>T
- NM_001407733.1:c.4924A>T
- NM_001407734.1:c.4924A>T
- NM_001407735.1:c.4924A>T
- NM_001407736.1:c.4924A>T
- NM_001407737.1:c.4924A>T
- NM_001407738.1:c.4924A>T
- NM_001407739.1:c.4924A>T
- NM_001407740.1:c.4924A>T
- NM_001407741.1:c.4924A>T
- NM_001407742.1:c.4924A>T
- NM_001407743.1:c.4924A>T
- NM_001407744.1:c.4924A>T
- NM_001407745.1:c.4924A>T
- NM_001407746.1:c.4924A>T
- NM_001407747.1:c.4924A>T
- NM_001407748.1:c.4924A>T
- NM_001407749.1:c.4924A>T
- NM_001407750.1:c.4924A>T
- NM_001407751.1:c.4924A>T
- NM_001407752.1:c.4924A>T
- NM_001407838.1:c.4921A>T
- NM_001407839.1:c.4921A>T
- NM_001407841.1:c.4921A>T
- NM_001407842.1:c.4921A>T
- NM_001407843.1:c.4921A>T
- NM_001407844.1:c.4921A>T
- NM_001407845.1:c.4921A>T
- NM_001407846.1:c.4921A>T
- NM_001407847.1:c.4921A>T
- NM_001407848.1:c.4921A>T
- NM_001407849.1:c.4921A>T
- NM_001407850.1:c.4921A>T
- NM_001407851.1:c.4921A>T
- NM_001407852.1:c.4921A>T
- NM_001407853.1:c.4921A>T
- NM_001407854.1:c.5068A>T
- NM_001407858.1:c.5065A>T
- NM_001407859.1:c.5065A>T
- NM_001407860.1:c.5065A>T
- NM_001407861.1:c.5062A>T
- NM_001407862.1:c.4867A>T
- NM_001407863.1:c.4942A>T
- NM_001407874.1:c.4861A>T
- NM_001407875.1:c.4861A>T
- NM_001407879.1:c.4858A>T
- NM_001407881.1:c.4858A>T
- NM_001407882.1:c.4858A>T
- NM_001407884.1:c.4858A>T
- NM_001407885.1:c.4858A>T
- NM_001407886.1:c.4858A>T
- NM_001407887.1:c.4858A>T
- NM_001407889.1:c.4858A>T
- NM_001407894.1:c.4855A>T
- NM_001407895.1:c.4855A>T
- NM_001407896.1:c.4855A>T
- NM_001407897.1:c.4855A>T
- NM_001407898.1:c.4855A>T
- NM_001407899.1:c.4855A>T
- NM_001407900.1:c.4855A>T
- NM_001407902.1:c.4855A>T
- NM_001407904.1:c.4855A>T
- NM_001407906.1:c.4855A>T
- NM_001407907.1:c.4855A>T
- NM_001407908.1:c.4855A>T
- NM_001407909.1:c.4855A>T
- NM_001407910.1:c.4855A>T
- NM_001407915.1:c.4852A>T
- NM_001407916.1:c.4852A>T
- NM_001407917.1:c.4852A>T
- NM_001407918.1:c.4852A>T
- NM_001407919.1:c.4945A>T
- NM_001407920.1:c.4804A>T
- NM_001407921.1:c.4804A>T
- NM_001407922.1:c.4804A>T
- NM_001407923.1:c.4804A>T
- NM_001407924.1:c.4804A>T
- NM_001407925.1:c.4804A>T
- NM_001407926.1:c.4804A>T
- NM_001407927.1:c.4801A>T
- NM_001407928.1:c.4801A>T
- NM_001407929.1:c.4801A>T
- NM_001407930.1:c.4801A>T
- NM_001407931.1:c.4801A>T
- NM_001407932.1:c.4801A>T
- NM_001407933.1:c.4801A>T
- NM_001407934.1:c.4798A>T
- NM_001407935.1:c.4798A>T
- NM_001407936.1:c.4798A>T
- NM_001407937.1:c.4945A>T
- NM_001407938.1:c.4945A>T
- NM_001407939.1:c.4942A>T
- NM_001407940.1:c.4942A>T
- NM_001407941.1:c.4939A>T
- NM_001407942.1:c.4927A>T
- NM_001407943.1:c.4924A>T
- NM_001407944.1:c.4924A>T
- NM_001407945.1:c.4924A>T
- NM_001407946.1:c.4735A>T
- NM_001407947.1:c.4735A>T
- NM_001407948.1:c.4735A>T
- NM_001407949.1:c.4735A>T
- NM_001407950.1:c.4732A>T
- NM_001407951.1:c.4732A>T
- NM_001407952.1:c.4732A>T
- NM_001407953.1:c.4732A>T
- NM_001407954.1:c.4732A>T
- NM_001407955.1:c.4732A>T
- NM_001407956.1:c.4729A>T
- NM_001407957.1:c.4729A>T
- NM_001407958.1:c.4729A>T
- NM_001407959.1:c.4687A>T
- NM_001407960.1:c.4684A>T
- NM_001407962.1:c.4684A>T
- NM_001407963.1:c.4681A>T
- NM_001407964.1:c.4606A>T
- NM_001407965.1:c.4561A>T
- NM_001407966.1:c.4180A>T
- NM_001407967.1:c.4177A>T
- NM_001407968.1:c.2464A>T
- NM_001407969.1:c.2461A>T
- NM_001407970.1:c.1825A>T
- NM_001407971.1:c.1825A>T
- NM_001407972.1:c.1822A>T
- NM_001407973.1:c.1759A>T
- NM_001407974.1:c.1759A>T
- NM_001407975.1:c.1759A>T
- NM_001407976.1:c.1759A>T
- NM_001407977.1:c.1759A>T
- NM_001407978.1:c.1759A>T
- NM_001407979.1:c.1756A>T
- NM_001407980.1:c.1756A>T
- NM_001407981.1:c.1756A>T
- NM_001407982.1:c.1756A>T
- NM_001407983.1:c.1756A>T
- NM_001407984.1:c.1756A>T
- NM_001407985.1:c.1756A>T
- NM_001407986.1:c.1756A>T
- NM_001407990.1:c.1756A>T
- NM_001407991.1:c.1756A>T
- NM_001407992.1:c.1756A>T
- NM_001407993.1:c.1756A>T
- NM_001408392.1:c.1753A>T
- NM_001408396.1:c.1753A>T
- NM_001408397.1:c.1753A>T
- NM_001408398.1:c.1753A>T
- NM_001408399.1:c.1753A>T
- NM_001408400.1:c.1753A>T
- NM_001408401.1:c.1753A>T
- NM_001408402.1:c.1753A>T
- NM_001408403.1:c.1753A>T
- NM_001408404.1:c.1753A>T
- NM_001408406.1:c.1750A>T
- NM_001408407.1:c.1750A>T
- NM_001408408.1:c.1750A>T
- NM_001408409.1:c.1747A>T
- NM_001408410.1:c.1684A>T
- NM_001408411.1:c.1681A>T
- NM_001408412.1:c.1678A>T
- NM_001408413.1:c.1678A>T
- NM_001408414.1:c.1678A>T
- NM_001408415.1:c.1678A>T
- NM_001408416.1:c.1678A>T
- NM_001408418.1:c.1642A>T
- NM_001408419.1:c.1642A>T
- NM_001408420.1:c.1642A>T
- NM_001408421.1:c.1639A>T
- NM_001408422.1:c.1639A>T
- NM_001408423.1:c.1639A>T
- NM_001408424.1:c.1639A>T
- NM_001408425.1:c.1636A>T
- NM_001408426.1:c.1636A>T
- NM_001408427.1:c.1636A>T
- NM_001408428.1:c.1636A>T
- NM_001408429.1:c.1636A>T
- NM_001408430.1:c.1636A>T
- NM_001408431.1:c.1636A>T
- NM_001408432.1:c.1633A>T
- NM_001408433.1:c.1633A>T
- NM_001408434.1:c.1633A>T
- NM_001408435.1:c.1633A>T
- NM_001408436.1:c.1633A>T
- NM_001408437.1:c.1633A>T
- NM_001408438.1:c.1633A>T
- NM_001408439.1:c.1633A>T
- NM_001408440.1:c.1633A>T
- NM_001408441.1:c.1633A>T
- NM_001408442.1:c.1633A>T
- NM_001408443.1:c.1633A>T
- NM_001408444.1:c.1633A>T
- NM_001408445.1:c.1630A>T
- NM_001408446.1:c.1630A>T
- NM_001408447.1:c.1630A>T
- NM_001408448.1:c.1630A>T
- NM_001408450.1:c.1630A>T
- NM_001408451.1:c.1624A>T
- NM_001408452.1:c.1618A>T
- NM_001408453.1:c.1618A>T
- NM_001408454.1:c.1618A>T
- NM_001408455.1:c.1618A>T
- NM_001408456.1:c.1618A>T
- NM_001408457.1:c.1618A>T
- NM_001408458.1:c.1615A>T
- NM_001408459.1:c.1615A>T
- NM_001408460.1:c.1615A>T
- NM_001408461.1:c.1615A>T
- NM_001408462.1:c.1615A>T
- NM_001408463.1:c.1615A>T
- NM_001408464.1:c.1615A>T
- NM_001408465.1:c.1615A>T
- NM_001408466.1:c.1615A>T
- NM_001408467.1:c.1615A>T
- NM_001408468.1:c.1612A>T
- NM_001408469.1:c.1612A>T
- NM_001408470.1:c.1612A>T
- NM_001408472.1:c.1756A>T
- NM_001408473.1:c.1753A>T
- NM_001408474.1:c.1558A>T
- NM_001408475.1:c.1555A>T
- NM_001408476.1:c.1555A>T
- NM_001408478.1:c.1549A>T
- NM_001408479.1:c.1549A>T
- NM_001408480.1:c.1549A>T
- NM_001408481.1:c.1546A>T
- NM_001408482.1:c.1546A>T
- NM_001408483.1:c.1546A>T
- NM_001408484.1:c.1546A>T
- NM_001408485.1:c.1546A>T
- NM_001408489.1:c.1546A>T
- NM_001408490.1:c.1546A>T
- NM_001408491.1:c.1546A>T
- NM_001408492.1:c.1543A>T
- NM_001408493.1:c.1543A>T
- NM_001408494.1:c.1519A>T
- NM_001408495.1:c.1513A>T
- NM_001408496.1:c.1495A>T
- NM_001408497.1:c.1495A>T
- NM_001408498.1:c.1495A>T
- NM_001408499.1:c.1495A>T
- NM_001408500.1:c.1495A>T
- NM_001408501.1:c.1495A>T
- NM_001408502.1:c.1492A>T
- NM_001408503.1:c.1492A>T
- NM_001408504.1:c.1492A>T
- NM_001408505.1:c.1489A>T
- NM_001408506.1:c.1432A>T
- NM_001408507.1:c.1429A>T
- NM_001408508.1:c.1420A>T
- NM_001408509.1:c.1417A>T
- NM_001408510.1:c.1378A>T
- NM_001408511.1:c.1375A>T
- NM_001408512.1:c.1255A>T
- NM_001408513.1:c.1228A>T
- NM_007294.4:c.5068A>TMANE SELECT
- NM_007297.4:c.4927A>T
- NM_007298.4:c.1756A>T
- NM_007299.4:c.1756A>T
- NM_007300.4:c.5131A>T
- NM_007304.2:c.1756A>T
- NP_001394500.1:p.Lys1619Ter
- NP_001394510.1:p.Lys1712Ter
- NP_001394511.1:p.Lys1712Ter
- NP_001394512.1:p.Lys1711Ter
- NP_001394514.1:p.Lys1711Ter
- NP_001394516.1:p.Lys1711Ter
- NP_001394519.1:p.Lys1710Ter
- NP_001394520.1:p.Lys1710Ter
- NP_001394522.1:p.Lys1690Ter
- NP_001394523.1:p.Lys1690Ter
- NP_001394525.1:p.Lys1690Ter
- NP_001394526.1:p.Lys1690Ter
- NP_001394527.1:p.Lys1690Ter
- NP_001394531.1:p.Lys1690Ter
- NP_001394532.1:p.Lys1690Ter
- NP_001394534.1:p.Lys1690Ter
- NP_001394539.1:p.Lys1689Ter
- NP_001394540.1:p.Lys1689Ter
- NP_001394541.1:p.Lys1689Ter
- NP_001394542.1:p.Lys1689Ter
- NP_001394543.1:p.Lys1689Ter
- NP_001394544.1:p.Lys1689Ter
- NP_001394545.1:p.Lys1689Ter
- NP_001394546.1:p.Lys1689Ter
- NP_001394547.1:p.Lys1689Ter
- NP_001394548.1:p.Lys1689Ter
- NP_001394549.1:p.Lys1689Ter
- NP_001394550.1:p.Lys1689Ter
- NP_001394551.1:p.Lys1689Ter
- NP_001394552.1:p.Lys1689Ter
- NP_001394553.1:p.Lys1689Ter
- NP_001394554.1:p.Lys1689Ter
- NP_001394555.1:p.Lys1689Ter
- NP_001394556.1:p.Lys1688Ter
- NP_001394557.1:p.Lys1688Ter
- NP_001394558.1:p.Lys1688Ter
- NP_001394559.1:p.Lys1688Ter
- NP_001394560.1:p.Lys1688Ter
- NP_001394561.1:p.Lys1688Ter
- NP_001394562.1:p.Lys1688Ter
- NP_001394563.1:p.Lys1688Ter
- NP_001394564.1:p.Lys1688Ter
- NP_001394565.1:p.Lys1688Ter
- NP_001394566.1:p.Lys1688Ter
- NP_001394567.1:p.Lys1688Ter
- NP_001394568.1:p.Lys1688Ter
- NP_001394569.1:p.Lys1688Ter
- NP_001394570.1:p.Lys1688Ter
- NP_001394571.1:p.Lys1688Ter
- NP_001394573.1:p.Lys1687Ter
- NP_001394574.1:p.Lys1687Ter
- NP_001394575.1:p.Lys1686Ter
- NP_001394576.1:p.Lys1685Ter
- NP_001394577.1:p.Lys1671Ter
- NP_001394578.1:p.Lys1670Ter
- NP_001394581.1:p.Lys1690Ter
- NP_001394582.1:p.Lys1664Ter
- NP_001394583.1:p.Lys1664Ter
- NP_001394584.1:p.Lys1664Ter
- NP_001394585.1:p.Lys1663Ter
- NP_001394586.1:p.Lys1663Ter
- NP_001394587.1:p.Lys1663Ter
- NP_001394588.1:p.Lys1662Ter
- NP_001394589.1:p.Lys1662Ter
- NP_001394590.1:p.Lys1662Ter
- NP_001394591.1:p.Lys1662Ter
- NP_001394592.1:p.Lys1662Ter
- NP_001394593.1:p.Lys1649Ter
- NP_001394594.1:p.Lys1649Ter
- NP_001394595.1:p.Lys1649Ter
- NP_001394596.1:p.Lys1649Ter
- NP_001394597.1:p.Lys1649Ter
- NP_001394598.1:p.Lys1649Ter
- NP_001394599.1:p.Lys1648Ter
- NP_001394600.1:p.Lys1648Ter
- NP_001394601.1:p.Lys1648Ter
- NP_001394602.1:p.Lys1648Ter
- NP_001394603.1:p.Lys1648Ter
- NP_001394604.1:p.Lys1648Ter
- NP_001394605.1:p.Lys1648Ter
- NP_001394606.1:p.Lys1648Ter
- NP_001394607.1:p.Lys1648Ter
- NP_001394608.1:p.Lys1648Ter
- NP_001394609.1:p.Lys1648Ter
- NP_001394610.1:p.Lys1647Ter
- NP_001394611.1:p.Lys1647Ter
- NP_001394612.1:p.Lys1647Ter
- NP_001394613.1:p.Lys1690Ter
- NP_001394614.1:p.Lys1647Ter
- NP_001394615.1:p.Lys1647Ter
- NP_001394616.1:p.Lys1647Ter
- NP_001394617.1:p.Lys1647Ter
- NP_001394618.1:p.Lys1647Ter
- NP_001394619.1:p.Lys1646Ter
- NP_001394620.1:p.Lys1646Ter
- NP_001394621.1:p.Lys1643Ter
- NP_001394623.1:p.Lys1643Ter
- NP_001394624.1:p.Lys1643Ter
- NP_001394625.1:p.Lys1643Ter
- NP_001394626.1:p.Lys1643Ter
- NP_001394627.1:p.Lys1643Ter
- NP_001394653.1:p.Lys1643Ter
- NP_001394654.1:p.Lys1643Ter
- NP_001394655.1:p.Lys1643Ter
- NP_001394656.1:p.Lys1643Ter
- NP_001394657.1:p.Lys1643Ter
- NP_001394658.1:p.Lys1643Ter
- NP_001394659.1:p.Lys1643Ter
- NP_001394660.1:p.Lys1643Ter
- NP_001394661.1:p.Lys1642Ter
- NP_001394662.1:p.Lys1642Ter
- NP_001394663.1:p.Lys1642Ter
- NP_001394664.1:p.Lys1642Ter
- NP_001394665.1:p.Lys1642Ter
- NP_001394666.1:p.Lys1642Ter
- NP_001394667.1:p.Lys1642Ter
- NP_001394668.1:p.Lys1642Ter
- NP_001394669.1:p.Lys1642Ter
- NP_001394670.1:p.Lys1642Ter
- NP_001394671.1:p.Lys1642Ter
- NP_001394672.1:p.Lys1642Ter
- NP_001394673.1:p.Lys1642Ter
- NP_001394674.1:p.Lys1642Ter
- NP_001394675.1:p.Lys1642Ter
- NP_001394676.1:p.Lys1642Ter
- NP_001394677.1:p.Lys1642Ter
- NP_001394678.1:p.Lys1642Ter
- NP_001394679.1:p.Lys1642Ter
- NP_001394680.1:p.Lys1642Ter
- NP_001394681.1:p.Lys1642Ter
- NP_001394767.1:p.Lys1641Ter
- NP_001394768.1:p.Lys1641Ter
- NP_001394770.1:p.Lys1641Ter
- NP_001394771.1:p.Lys1641Ter
- NP_001394772.1:p.Lys1641Ter
- NP_001394773.1:p.Lys1641Ter
- NP_001394774.1:p.Lys1641Ter
- NP_001394775.1:p.Lys1641Ter
- NP_001394776.1:p.Lys1641Ter
- NP_001394777.1:p.Lys1641Ter
- NP_001394778.1:p.Lys1641Ter
- NP_001394779.1:p.Lys1641Ter
- NP_001394780.1:p.Lys1641Ter
- NP_001394781.1:p.Lys1641Ter
- NP_001394782.1:p.Lys1641Ter
- NP_001394783.1:p.Lys1690Ter
- NP_001394787.1:p.Lys1689Ter
- NP_001394788.1:p.Lys1689Ter
- NP_001394789.1:p.Lys1689Ter
- NP_001394790.1:p.Lys1688Ter
- NP_001394791.1:p.Lys1623Ter
- NP_001394792.1:p.Lys1648Ter
- NP_001394803.1:p.Lys1621Ter
- NP_001394804.1:p.Lys1621Ter
- NP_001394808.1:p.Lys1620Ter
- NP_001394810.1:p.Lys1620Ter
- NP_001394811.1:p.Lys1620Ter
- NP_001394813.1:p.Lys1620Ter
- NP_001394814.1:p.Lys1620Ter
- NP_001394815.1:p.Lys1620Ter
- NP_001394816.1:p.Lys1620Ter
- NP_001394818.1:p.Lys1620Ter
- NP_001394823.1:p.Lys1619Ter
- NP_001394824.1:p.Lys1619Ter
- NP_001394825.1:p.Lys1619Ter
- NP_001394826.1:p.Lys1619Ter
- NP_001394827.1:p.Lys1619Ter
- NP_001394828.1:p.Lys1619Ter
- NP_001394829.1:p.Lys1619Ter
- NP_001394831.1:p.Lys1619Ter
- NP_001394833.1:p.Lys1619Ter
- NP_001394835.1:p.Lys1619Ter
- NP_001394836.1:p.Lys1619Ter
- NP_001394837.1:p.Lys1619Ter
- NP_001394838.1:p.Lys1619Ter
- NP_001394839.1:p.Lys1619Ter
- NP_001394844.1:p.Lys1618Ter
- NP_001394845.1:p.Lys1618Ter
- NP_001394846.1:p.Lys1618Ter
- NP_001394847.1:p.Lys1618Ter
- NP_001394848.1:p.Lys1649Ter
- NP_001394849.1:p.Lys1602Ter
- NP_001394850.1:p.Lys1602Ter
- NP_001394851.1:p.Lys1602Ter
- NP_001394852.1:p.Lys1602Ter
- NP_001394853.1:p.Lys1602Ter
- NP_001394854.1:p.Lys1602Ter
- NP_001394855.1:p.Lys1602Ter
- NP_001394856.1:p.Lys1601Ter
- NP_001394857.1:p.Lys1601Ter
- NP_001394858.1:p.Lys1601Ter
- NP_001394859.1:p.Lys1601Ter
- NP_001394860.1:p.Lys1601Ter
- NP_001394861.1:p.Lys1601Ter
- NP_001394862.1:p.Lys1601Ter
- NP_001394863.1:p.Lys1600Ter
- NP_001394864.1:p.Lys1600Ter
- NP_001394865.1:p.Lys1600Ter
- NP_001394866.1:p.Lys1649Ter
- NP_001394867.1:p.Lys1649Ter
- NP_001394868.1:p.Lys1648Ter
- NP_001394869.1:p.Lys1648Ter
- NP_001394870.1:p.Lys1647Ter
- NP_001394871.1:p.Lys1643Ter
- NP_001394872.1:p.Lys1642Ter
- NP_001394873.1:p.Lys1642Ter
- NP_001394874.1:p.Lys1642Ter
- NP_001394875.1:p.Lys1579Ter
- NP_001394876.1:p.Lys1579Ter
- NP_001394877.1:p.Lys1579Ter
- NP_001394878.1:p.Lys1579Ter
- NP_001394879.1:p.Lys1578Ter
- NP_001394880.1:p.Lys1578Ter
- NP_001394881.1:p.Lys1578Ter
- NP_001394882.1:p.Lys1578Ter
- NP_001394883.1:p.Lys1578Ter
- NP_001394884.1:p.Lys1578Ter
- NP_001394885.1:p.Lys1577Ter
- NP_001394886.1:p.Lys1577Ter
- NP_001394887.1:p.Lys1577Ter
- NP_001394888.1:p.Lys1563Ter
- NP_001394889.1:p.Lys1562Ter
- NP_001394891.1:p.Lys1562Ter
- NP_001394892.1:p.Lys1561Ter
- NP_001394893.1:p.Lys1536Ter
- NP_001394894.1:p.Lys1521Ter
- NP_001394895.1:p.Lys1394Ter
- NP_001394896.1:p.Lys1393Ter
- NP_001394897.1:p.Lys822Ter
- NP_001394898.1:p.Lys821Ter
- NP_001394899.1:p.Lys609Ter
- NP_001394900.1:p.Lys609Ter
- NP_001394901.1:p.Lys608Ter
- NP_001394902.1:p.Lys587Ter
- NP_001394903.1:p.Lys587Ter
- NP_001394904.1:p.Lys587Ter
- NP_001394905.1:p.Lys587Ter
- NP_001394906.1:p.Lys587Ter
- NP_001394907.1:p.Lys587Ter
- NP_001394908.1:p.Lys586Ter
- NP_001394909.1:p.Lys586Ter
- NP_001394910.1:p.Lys586Ter
- NP_001394911.1:p.Lys586Ter
- NP_001394912.1:p.Lys586Ter
- NP_001394913.1:p.Lys586Ter
- NP_001394914.1:p.Lys586Ter
- NP_001394915.1:p.Lys586Ter
- NP_001394919.1:p.Lys586Ter
- NP_001394920.1:p.Lys586Ter
- NP_001394921.1:p.Lys586Ter
- NP_001394922.1:p.Lys586Ter
- NP_001395321.1:p.Lys585Ter
- NP_001395325.1:p.Lys585Ter
- NP_001395326.1:p.Lys585Ter
- NP_001395327.1:p.Lys585Ter
- NP_001395328.1:p.Lys585Ter
- NP_001395329.1:p.Lys585Ter
- NP_001395330.1:p.Lys585Ter
- NP_001395331.1:p.Lys585Ter
- NP_001395332.1:p.Lys585Ter
- NP_001395333.1:p.Lys585Ter
- NP_001395335.1:p.Lys584Ter
- NP_001395336.1:p.Lys584Ter
- NP_001395337.1:p.Lys584Ter
- NP_001395338.1:p.Lys583Ter
- NP_001395339.1:p.Lys562Ter
- NP_001395340.1:p.Lys561Ter
- NP_001395341.1:p.Lys560Ter
- NP_001395342.1:p.Lys560Ter
- NP_001395343.1:p.Lys560Ter
- NP_001395344.1:p.Lys560Ter
- NP_001395345.1:p.Lys560Ter
- NP_001395347.1:p.Lys548Ter
- NP_001395348.1:p.Lys548Ter
- NP_001395349.1:p.Lys548Ter
- NP_001395350.1:p.Lys547Ter
- NP_001395351.1:p.Lys547Ter
- NP_001395352.1:p.Lys547Ter
- NP_001395353.1:p.Lys547Ter
- NP_001395354.1:p.Lys546Ter
- NP_001395355.1:p.Lys546Ter
- NP_001395356.1:p.Lys546Ter
- NP_001395357.1:p.Lys546Ter
- NP_001395358.1:p.Lys546Ter
- NP_001395359.1:p.Lys546Ter
- NP_001395360.1:p.Lys546Ter
- NP_001395361.1:p.Lys545Ter
- NP_001395362.1:p.Lys545Ter
- NP_001395363.1:p.Lys545Ter
- NP_001395364.1:p.Lys545Ter
- NP_001395365.1:p.Lys545Ter
- NP_001395366.1:p.Lys545Ter
- NP_001395367.1:p.Lys545Ter
- NP_001395368.1:p.Lys545Ter
- NP_001395369.1:p.Lys545Ter
- NP_001395370.1:p.Lys545Ter
- NP_001395371.1:p.Lys545Ter
- NP_001395372.1:p.Lys545Ter
- NP_001395373.1:p.Lys545Ter
- NP_001395374.1:p.Lys544Ter
- NP_001395375.1:p.Lys544Ter
- NP_001395376.1:p.Lys544Ter
- NP_001395377.1:p.Lys544Ter
- NP_001395379.1:p.Lys544Ter
- NP_001395380.1:p.Lys542Ter
- NP_001395381.1:p.Lys540Ter
- NP_001395382.1:p.Lys540Ter
- NP_001395383.1:p.Lys540Ter
- NP_001395384.1:p.Lys540Ter
- NP_001395385.1:p.Lys540Ter
- NP_001395386.1:p.Lys540Ter
- NP_001395387.1:p.Lys539Ter
- NP_001395388.1:p.Lys539Ter
- NP_001395389.1:p.Lys539Ter
- NP_001395390.1:p.Lys539Ter
- NP_001395391.1:p.Lys539Ter
- NP_001395392.1:p.Lys539Ter
- NP_001395393.1:p.Lys539Ter
- NP_001395394.1:p.Lys539Ter
- NP_001395395.1:p.Lys539Ter
- NP_001395396.1:p.Lys539Ter
- NP_001395397.1:p.Lys538Ter
- NP_001395398.1:p.Lys538Ter
- NP_001395399.1:p.Lys538Ter
- NP_001395401.1:p.Lys586Ter
- NP_001395402.1:p.Lys585Ter
- NP_001395403.1:p.Lys520Ter
- NP_001395404.1:p.Lys519Ter
- NP_001395405.1:p.Lys519Ter
- NP_001395407.1:p.Lys517Ter
- NP_001395408.1:p.Lys517Ter
- NP_001395409.1:p.Lys517Ter
- NP_001395410.1:p.Lys516Ter
- NP_001395411.1:p.Lys516Ter
- NP_001395412.1:p.Lys516Ter
- NP_001395413.1:p.Lys516Ter
- NP_001395414.1:p.Lys516Ter
- NP_001395418.1:p.Lys516Ter
- NP_001395419.1:p.Lys516Ter
- NP_001395420.1:p.Lys516Ter
- NP_001395421.1:p.Lys515Ter
- NP_001395422.1:p.Lys515Ter
- NP_001395423.1:p.Lys507Ter
- NP_001395424.1:p.Lys505Ter
- NP_001395425.1:p.Lys499Ter
- NP_001395426.1:p.Lys499Ter
- NP_001395427.1:p.Lys499Ter
- NP_001395428.1:p.Lys499Ter
- NP_001395429.1:p.Lys499Ter
- NP_001395430.1:p.Lys499Ter
- NP_001395431.1:p.Lys498Ter
- NP_001395432.1:p.Lys498Ter
- NP_001395433.1:p.Lys498Ter
- NP_001395434.1:p.Lys497Ter
- NP_001395435.1:p.Lys478Ter
- NP_001395436.1:p.Lys477Ter
- NP_001395437.1:p.Lys474Ter
- NP_001395438.1:p.Lys473Ter
- NP_001395439.1:p.Lys460Ter
- NP_001395440.1:p.Lys459Ter
- NP_001395441.1:p.Lys419Ter
- NP_001395442.1:p.Lys410Ter
- NP_009225.1:p.Lys1690Ter
- NP_009225.1:p.Lys1690Ter
- NP_009228.2:p.Lys1643Ter
- NP_009229.2:p.Lys586Ter
- NP_009229.2:p.Lys586Ter
- NP_009230.2:p.Lys586Ter
- NP_009231.2:p.Lys1711Ter
- NP_009235.2:p.Lys586Ter
- LRG_292t1:c.5068A>T
- LRG_292:g.150370A>T
- LRG_292p1:p.Lys1690Ter
- NC_000017.10:g.41219631T>A
- NM_007294.3:c.5068A>T
- NM_007298.3:c.1756A>T
- NR_027676.2:n.5245A>T
This HGVS expression did not pass validation- Nucleotide change:
- 5187A>T
- Protein change:
- K1393*
- Links:
- dbSNP: rs397507239
- NCBI 1000 Genomes Browser:
- rs397507239
- Molecular consequence:
- NR_027676.2:n.5245A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NM_001407571.1:c.4855A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407581.1:c.5134A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407582.1:c.5134A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407583.1:c.5131A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407585.1:c.5131A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407587.1:c.5131A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407590.1:c.5128A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407591.1:c.5128A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407593.1:c.5068A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407594.1:c.5068A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407596.1:c.5068A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407597.1:c.5068A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407598.1:c.5068A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407602.1:c.5068A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407603.1:c.5068A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407605.1:c.5068A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407610.1:c.5065A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407611.1:c.5065A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407612.1:c.5065A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407613.1:c.5065A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407614.1:c.5065A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407615.1:c.5065A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407616.1:c.5065A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407617.1:c.5065A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407618.1:c.5065A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407619.1:c.5065A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407620.1:c.5065A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407621.1:c.5065A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407622.1:c.5065A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407623.1:c.5065A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407624.1:c.5065A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407625.1:c.5065A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407626.1:c.5065A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407627.1:c.5062A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407628.1:c.5062A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407629.1:c.5062A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407630.1:c.5062A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407631.1:c.5062A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407632.1:c.5062A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407633.1:c.5062A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407634.1:c.5062A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407635.1:c.5062A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407636.1:c.5062A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407637.1:c.5062A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407638.1:c.5062A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407639.1:c.5062A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407640.1:c.5062A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407641.1:c.5062A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407642.1:c.5062A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407644.1:c.5059A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407645.1:c.5059A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407646.1:c.5056A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407647.1:c.5053A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407648.1:c.5011A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407649.1:c.5008A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407652.1:c.5068A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407653.1:c.4990A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407654.1:c.4990A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407655.1:c.4990A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407656.1:c.4987A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407657.1:c.4987A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407658.1:c.4987A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407659.1:c.4984A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407660.1:c.4984A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407661.1:c.4984A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407662.1:c.4984A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407663.1:c.4984A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407664.1:c.4945A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407665.1:c.4945A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407666.1:c.4945A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407667.1:c.4945A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407668.1:c.4945A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407669.1:c.4945A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407670.1:c.4942A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407671.1:c.4942A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407672.1:c.4942A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407673.1:c.4942A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407674.1:c.4942A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407675.1:c.4942A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407676.1:c.4942A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407677.1:c.4942A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407678.1:c.4942A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407679.1:c.4942A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407680.1:c.4942A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407681.1:c.4939A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407682.1:c.4939A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407683.1:c.4939A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407684.1:c.5068A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407685.1:c.4939A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407686.1:c.4939A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407687.1:c.4939A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407688.1:c.4939A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407689.1:c.4939A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407690.1:c.4936A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407691.1:c.4936A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407692.1:c.4927A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407694.1:c.4927A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407695.1:c.4927A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407696.1:c.4927A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407697.1:c.4927A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407698.1:c.4927A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407724.1:c.4927A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407725.1:c.4927A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407726.1:c.4927A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407727.1:c.4927A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407728.1:c.4927A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407729.1:c.4927A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407730.1:c.4927A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407731.1:c.4927A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407732.1:c.4924A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407733.1:c.4924A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407734.1:c.4924A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407735.1:c.4924A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407736.1:c.4924A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407737.1:c.4924A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407738.1:c.4924A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407739.1:c.4924A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407740.1:c.4924A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407741.1:c.4924A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407742.1:c.4924A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407743.1:c.4924A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407744.1:c.4924A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407745.1:c.4924A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407746.1:c.4924A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407747.1:c.4924A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407748.1:c.4924A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407749.1:c.4924A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407750.1:c.4924A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407751.1:c.4924A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407752.1:c.4924A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407838.1:c.4921A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407839.1:c.4921A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407841.1:c.4921A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407842.1:c.4921A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407843.1:c.4921A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407844.1:c.4921A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407845.1:c.4921A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407846.1:c.4921A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407847.1:c.4921A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407848.1:c.4921A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407849.1:c.4921A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407850.1:c.4921A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407851.1:c.4921A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407852.1:c.4921A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407853.1:c.4921A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407854.1:c.5068A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407858.1:c.5065A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407859.1:c.5065A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407860.1:c.5065A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407861.1:c.5062A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407862.1:c.4867A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407863.1:c.4942A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407874.1:c.4861A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407875.1:c.4861A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407879.1:c.4858A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407881.1:c.4858A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407882.1:c.4858A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407884.1:c.4858A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407885.1:c.4858A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407886.1:c.4858A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407887.1:c.4858A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407889.1:c.4858A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407894.1:c.4855A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407895.1:c.4855A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407896.1:c.4855A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407897.1:c.4855A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407898.1:c.4855A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407899.1:c.4855A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407900.1:c.4855A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407902.1:c.4855A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407904.1:c.4855A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407906.1:c.4855A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407907.1:c.4855A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407908.1:c.4855A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407909.1:c.4855A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407910.1:c.4855A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407915.1:c.4852A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407916.1:c.4852A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407917.1:c.4852A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407918.1:c.4852A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407919.1:c.4945A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407920.1:c.4804A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407921.1:c.4804A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407922.1:c.4804A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407923.1:c.4804A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407924.1:c.4804A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407925.1:c.4804A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407926.1:c.4804A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407927.1:c.4801A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407928.1:c.4801A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407929.1:c.4801A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407930.1:c.4801A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407931.1:c.4801A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407932.1:c.4801A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407933.1:c.4801A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407934.1:c.4798A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407935.1:c.4798A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407936.1:c.4798A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407937.1:c.4945A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407938.1:c.4945A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407939.1:c.4942A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407940.1:c.4942A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407941.1:c.4939A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407942.1:c.4927A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407943.1:c.4924A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407944.1:c.4924A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407945.1:c.4924A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407946.1:c.4735A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407947.1:c.4735A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407948.1:c.4735A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407949.1:c.4735A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407950.1:c.4732A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407951.1:c.4732A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407952.1:c.4732A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407953.1:c.4732A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407954.1:c.4732A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407955.1:c.4732A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407956.1:c.4729A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407957.1:c.4729A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407958.1:c.4729A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407959.1:c.4687A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407960.1:c.4684A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407962.1:c.4684A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407963.1:c.4681A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407964.1:c.4606A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407965.1:c.4561A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407966.1:c.4180A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407967.1:c.4177A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407968.1:c.2464A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407969.1:c.2461A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407970.1:c.1825A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407971.1:c.1825A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407972.1:c.1822A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407973.1:c.1759A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407974.1:c.1759A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407975.1:c.1759A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407976.1:c.1759A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407977.1:c.1759A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407978.1:c.1759A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407979.1:c.1756A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407980.1:c.1756A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407981.1:c.1756A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407982.1:c.1756A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407983.1:c.1756A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407984.1:c.1756A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407985.1:c.1756A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407986.1:c.1756A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407990.1:c.1756A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407991.1:c.1756A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407992.1:c.1756A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407993.1:c.1756A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408392.1:c.1753A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408396.1:c.1753A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408397.1:c.1753A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408398.1:c.1753A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408399.1:c.1753A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408400.1:c.1753A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408401.1:c.1753A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408402.1:c.1753A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408403.1:c.1753A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408404.1:c.1753A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408406.1:c.1750A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408407.1:c.1750A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408408.1:c.1750A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408409.1:c.1747A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408410.1:c.1684A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408411.1:c.1681A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408412.1:c.1678A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408413.1:c.1678A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408414.1:c.1678A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408415.1:c.1678A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408416.1:c.1678A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408418.1:c.1642A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408419.1:c.1642A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408420.1:c.1642A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408421.1:c.1639A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408422.1:c.1639A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408423.1:c.1639A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408424.1:c.1639A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408425.1:c.1636A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408426.1:c.1636A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408427.1:c.1636A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408428.1:c.1636A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408429.1:c.1636A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408430.1:c.1636A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408431.1:c.1636A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408432.1:c.1633A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408433.1:c.1633A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408434.1:c.1633A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408435.1:c.1633A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408436.1:c.1633A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408437.1:c.1633A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408438.1:c.1633A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408439.1:c.1633A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408440.1:c.1633A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408441.1:c.1633A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408442.1:c.1633A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408443.1:c.1633A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408444.1:c.1633A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408445.1:c.1630A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408446.1:c.1630A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408447.1:c.1630A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408448.1:c.1630A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408450.1:c.1630A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408451.1:c.1624A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408452.1:c.1618A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408453.1:c.1618A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408454.1:c.1618A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408455.1:c.1618A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408456.1:c.1618A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408457.1:c.1618A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408458.1:c.1615A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408459.1:c.1615A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408460.1:c.1615A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408461.1:c.1615A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408462.1:c.1615A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408463.1:c.1615A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408464.1:c.1615A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408465.1:c.1615A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408466.1:c.1615A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408467.1:c.1615A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408468.1:c.1612A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408469.1:c.1612A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408470.1:c.1612A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408472.1:c.1756A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408473.1:c.1753A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408474.1:c.1558A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408475.1:c.1555A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408476.1:c.1555A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408478.1:c.1549A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408479.1:c.1549A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408480.1:c.1549A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408481.1:c.1546A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408482.1:c.1546A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408483.1:c.1546A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408484.1:c.1546A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408485.1:c.1546A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408489.1:c.1546A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408490.1:c.1546A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408491.1:c.1546A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408492.1:c.1543A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408493.1:c.1543A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408494.1:c.1519A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408495.1:c.1513A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408496.1:c.1495A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408497.1:c.1495A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408498.1:c.1495A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408499.1:c.1495A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408500.1:c.1495A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408501.1:c.1495A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408502.1:c.1492A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408503.1:c.1492A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408504.1:c.1492A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408505.1:c.1489A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408506.1:c.1432A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408507.1:c.1429A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408508.1:c.1420A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408509.1:c.1417A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408510.1:c.1378A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408511.1:c.1375A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408512.1:c.1255A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408513.1:c.1228A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_007294.4:c.5068A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_007297.4:c.4927A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_007298.4:c.1756A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_007299.4:c.1756A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_007300.4:c.5131A>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_007304.2:c.1756A>T - nonsense - [Sequence Ontology: SO:0001587]
- Functional consequence:
- functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5068A>T, a NONSENSE variant, produced a function score of -2.05, 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.
- Observations:
- 1
Condition(s)
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000053807 | Sharing Clinical Reports Project (SCRP) | no assertion criteria provided | Pathogenic (May 12, 2010) | germline | clinical testing | |
SCV000300194 | Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) | reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015)) | Pathogenic (Sep 8, 2016) | germline | curation | ENIGMA BRCA1/2 Classification Criteria (2015), |
SCV000326129 | Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge | criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016) | Pathogenic (Oct 2, 2015) | germline | clinical testing | CIMBA_Mutation_Classification_guidelines_May16.pdf, |
SCV000785794 | Counsyl | criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015)) | Pathogenic (Nov 28, 2017) | unknown | clinical testing | PubMed (2) Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf, |
SCV001242039 | Brotman Baty Institute, University of Washington | no classification provided | not provided | not applicable | in vitro | |
SCV004215046 | Baylor Genetics | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Jul 29, 2023) | unknown | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | not applicable | not applicable | not provided | not provided | not provided | not provided | not provided | in vitro |
not provided | germline | not provided | 1 | not provided | not provided | 1 | not provided | clinical testing |
not provided | germline | unknown | not provided | 1 | not provided | not provided | not provided | clinical testing, curation |
not provided | unknown | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.
Foley SB, Rios JJ, Mgbemena VE, Robinson LS, Hampel HL, Toland AE, Durham L, Ross TS.
EBioMedicine. 2015 Jan;2(1):74-81.
- PMID:
- 26023681
- PMCID:
- PMC4444225
Robertson L, Hanson H, Seal S, Warren-Perry M, Hughes D, Howell I, Turnbull C, Houlston R, Shanley S, Butler S, Evans DG, Ross G, Eccles D, Tutt A, Rahman N; TNT Trial TMG.; BCSC (UK)..
Br J Cancer. 2012 Mar 13;106(6):1234-8. doi: 10.1038/bjc.2012.31. Epub 2012 Feb 14.
- PMID:
- 22333603
- PMCID:
- PMC3304410
Details of each submission
From Sharing Clinical Reports Project (SCRP), SCV000053807.3
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | not provided | 1 | not provided | not provided | not provided | not provided | not provided | not provided |
From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000300194.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | curation | not provided |
Description
Variant allele predicted to encode a truncated non-functional protein.
# | 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 Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000326129.4
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | 1 | not provided |
From Counsyl, SCV000785794.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (2) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Brotman Baty Institute, University of Washington, SCV001242039.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | in vitro | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | not applicable | not applicable | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Baylor Genetics, SCV004215046.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Jun 2, 2024