ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5083T>G (p.Phe1695Val)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.5083T>G (p.Phe1695Val)
Variation ID: 869009 Accession: VCV000869009.3
- Type and length
-
single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43063943 (GRCh38) [ NCBI UCSC ] 17: 41215960 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 18, 2020 Nov 29, 2021 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.5083T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Phe1695Val missense NM_001407571.1:c.4870T>G NP_001394500.1:p.Phe1624Val missense NM_001407581.1:c.5149T>G NP_001394510.1:p.Phe1717Val missense NM_001407582.1:c.5149T>G NP_001394511.1:p.Phe1717Val missense NM_001407583.1:c.5146T>G NP_001394512.1:p.Phe1716Val missense NM_001407585.1:c.5146T>G NP_001394514.1:p.Phe1716Val missense NM_001407587.1:c.5146T>G NP_001394516.1:p.Phe1716Val missense NM_001407590.1:c.5143T>G NP_001394519.1:p.Phe1715Val missense NM_001407591.1:c.5143T>G NP_001394520.1:p.Phe1715Val missense NM_001407593.1:c.5083T>G NP_001394522.1:p.Phe1695Val missense NM_001407594.1:c.5083T>G NP_001394523.1:p.Phe1695Val missense NM_001407596.1:c.5083T>G NP_001394525.1:p.Phe1695Val missense NM_001407597.1:c.5083T>G NP_001394526.1:p.Phe1695Val missense NM_001407598.1:c.5083T>G NP_001394527.1:p.Phe1695Val missense NM_001407602.1:c.5083T>G NP_001394531.1:p.Phe1695Val missense NM_001407603.1:c.5083T>G NP_001394532.1:p.Phe1695Val missense NM_001407605.1:c.5083T>G NP_001394534.1:p.Phe1695Val missense NM_001407610.1:c.5080T>G NP_001394539.1:p.Phe1694Val missense NM_001407611.1:c.5080T>G NP_001394540.1:p.Phe1694Val missense NM_001407612.1:c.5080T>G NP_001394541.1:p.Phe1694Val missense NM_001407613.1:c.5080T>G NP_001394542.1:p.Phe1694Val missense NM_001407614.1:c.5080T>G NP_001394543.1:p.Phe1694Val missense NM_001407615.1:c.5080T>G NP_001394544.1:p.Phe1694Val missense NM_001407616.1:c.5080T>G NP_001394545.1:p.Phe1694Val missense NM_001407617.1:c.5080T>G NP_001394546.1:p.Phe1694Val missense NM_001407618.1:c.5080T>G NP_001394547.1:p.Phe1694Val missense NM_001407619.1:c.5080T>G NP_001394548.1:p.Phe1694Val missense NM_001407620.1:c.5080T>G NP_001394549.1:p.Phe1694Val missense NM_001407621.1:c.5080T>G NP_001394550.1:p.Phe1694Val missense NM_001407622.1:c.5080T>G NP_001394551.1:p.Phe1694Val missense NM_001407623.1:c.5080T>G NP_001394552.1:p.Phe1694Val missense NM_001407624.1:c.5080T>G NP_001394553.1:p.Phe1694Val missense NM_001407625.1:c.5080T>G NP_001394554.1:p.Phe1694Val missense NM_001407626.1:c.5080T>G NP_001394555.1:p.Phe1694Val missense NM_001407627.1:c.5077T>G NP_001394556.1:p.Phe1693Val missense NM_001407628.1:c.5077T>G NP_001394557.1:p.Phe1693Val missense NM_001407629.1:c.5077T>G NP_001394558.1:p.Phe1693Val missense NM_001407630.1:c.5077T>G NP_001394559.1:p.Phe1693Val missense NM_001407631.1:c.5077T>G NP_001394560.1:p.Phe1693Val missense NM_001407632.1:c.5077T>G NP_001394561.1:p.Phe1693Val missense NM_001407633.1:c.5077T>G NP_001394562.1:p.Phe1693Val missense NM_001407634.1:c.5077T>G NP_001394563.1:p.Phe1693Val missense NM_001407635.1:c.5077T>G NP_001394564.1:p.Phe1693Val missense NM_001407636.1:c.5077T>G NP_001394565.1:p.Phe1693Val missense NM_001407637.1:c.5077T>G NP_001394566.1:p.Phe1693Val missense NM_001407638.1:c.5077T>G NP_001394567.1:p.Phe1693Val missense NM_001407639.1:c.5077T>G NP_001394568.1:p.Phe1693Val missense NM_001407640.1:c.5077T>G NP_001394569.1:p.Phe1693Val missense NM_001407641.1:c.5077T>G NP_001394570.1:p.Phe1693Val missense NM_001407642.1:c.5077T>G NP_001394571.1:p.Phe1693Val missense NM_001407644.1:c.5074T>G NP_001394573.1:p.Phe1692Val missense NM_001407645.1:c.5074T>G NP_001394574.1:p.Phe1692Val missense NM_001407646.1:c.5071T>G NP_001394575.1:p.Phe1691Val missense NM_001407647.1:c.5068T>G NP_001394576.1:p.Phe1690Val missense NM_001407648.1:c.5026T>G NP_001394577.1:p.Phe1676Val missense NM_001407649.1:c.5023T>G NP_001394578.1:p.Phe1675Val missense NM_001407653.1:c.5005T>G NP_001394582.1:p.Phe1669Val missense NM_001407654.1:c.5005T>G NP_001394583.1:p.Phe1669Val missense NM_001407655.1:c.5005T>G NP_001394584.1:p.Phe1669Val missense NM_001407656.1:c.5002T>G NP_001394585.1:p.Phe1668Val missense NM_001407657.1:c.5002T>G NP_001394586.1:p.Phe1668Val missense NM_001407658.1:c.5002T>G NP_001394587.1:p.Phe1668Val missense NM_001407659.1:c.4999T>G NP_001394588.1:p.Phe1667Val missense NM_001407660.1:c.4999T>G NP_001394589.1:p.Phe1667Val missense NM_001407661.1:c.4999T>G NP_001394590.1:p.Phe1667Val missense NM_001407662.1:c.4999T>G NP_001394591.1:p.Phe1667Val missense NM_001407663.1:c.4999T>G NP_001394592.1:p.Phe1667Val missense NM_001407664.1:c.4960T>G NP_001394593.1:p.Phe1654Val missense NM_001407665.1:c.4960T>G NP_001394594.1:p.Phe1654Val missense NM_001407666.1:c.4960T>G NP_001394595.1:p.Phe1654Val missense NM_001407667.1:c.4960T>G NP_001394596.1:p.Phe1654Val missense NM_001407668.1:c.4960T>G NP_001394597.1:p.Phe1654Val missense NM_001407669.1:c.4960T>G NP_001394598.1:p.Phe1654Val missense NM_001407670.1:c.4957T>G NP_001394599.1:p.Phe1653Val missense NM_001407671.1:c.4957T>G NP_001394600.1:p.Phe1653Val missense NM_001407672.1:c.4957T>G NP_001394601.1:p.Phe1653Val missense NM_001407673.1:c.4957T>G NP_001394602.1:p.Phe1653Val missense NM_001407674.1:c.4957T>G NP_001394603.1:p.Phe1653Val missense NM_001407675.1:c.4957T>G NP_001394604.1:p.Phe1653Val missense NM_001407676.1:c.4957T>G NP_001394605.1:p.Phe1653Val missense NM_001407677.1:c.4957T>G NP_001394606.1:p.Phe1653Val missense NM_001407678.1:c.4957T>G NP_001394607.1:p.Phe1653Val missense NM_001407679.1:c.4957T>G NP_001394608.1:p.Phe1653Val missense NM_001407680.1:c.4957T>G NP_001394609.1:p.Phe1653Val missense NM_001407681.1:c.4954T>G NP_001394610.1:p.Phe1652Val missense NM_001407682.1:c.4954T>G NP_001394611.1:p.Phe1652Val missense NM_001407683.1:c.4954T>G NP_001394612.1:p.Phe1652Val missense NM_001407684.1:c.5083T>G NP_001394613.1:p.Phe1695Val missense NM_001407685.1:c.4954T>G NP_001394614.1:p.Phe1652Val missense NM_001407686.1:c.4954T>G NP_001394615.1:p.Phe1652Val missense NM_001407687.1:c.4954T>G NP_001394616.1:p.Phe1652Val missense NM_001407688.1:c.4954T>G NP_001394617.1:p.Phe1652Val missense NM_001407689.1:c.4954T>G NP_001394618.1:p.Phe1652Val missense NM_001407690.1:c.4951T>G NP_001394619.1:p.Phe1651Val missense NM_001407691.1:c.4951T>G NP_001394620.1:p.Phe1651Val missense NM_001407692.1:c.4942T>G NP_001394621.1:p.Phe1648Val missense NM_001407694.1:c.4942T>G NP_001394623.1:p.Phe1648Val missense NM_001407695.1:c.4942T>G NP_001394624.1:p.Phe1648Val missense NM_001407696.1:c.4942T>G NP_001394625.1:p.Phe1648Val missense NM_001407697.1:c.4942T>G NP_001394626.1:p.Phe1648Val missense NM_001407698.1:c.4942T>G NP_001394627.1:p.Phe1648Val missense NM_001407724.1:c.4942T>G NP_001394653.1:p.Phe1648Val missense NM_001407725.1:c.4942T>G NP_001394654.1:p.Phe1648Val missense NM_001407726.1:c.4942T>G NP_001394655.1:p.Phe1648Val missense NM_001407727.1:c.4942T>G NP_001394656.1:p.Phe1648Val missense NM_001407728.1:c.4942T>G NP_001394657.1:p.Phe1648Val missense NM_001407729.1:c.4942T>G NP_001394658.1:p.Phe1648Val missense NM_001407730.1:c.4942T>G NP_001394659.1:p.Phe1648Val missense NM_001407731.1:c.4942T>G NP_001394660.1:p.Phe1648Val missense NM_001407732.1:c.4939T>G NP_001394661.1:p.Phe1647Val missense NM_001407733.1:c.4939T>G NP_001394662.1:p.Phe1647Val missense NM_001407734.1:c.4939T>G NP_001394663.1:p.Phe1647Val missense NM_001407735.1:c.4939T>G NP_001394664.1:p.Phe1647Val missense NM_001407736.1:c.4939T>G NP_001394665.1:p.Phe1647Val missense NM_001407737.1:c.4939T>G NP_001394666.1:p.Phe1647Val missense NM_001407738.1:c.4939T>G NP_001394667.1:p.Phe1647Val missense NM_001407739.1:c.4939T>G NP_001394668.1:p.Phe1647Val missense NM_001407740.1:c.4939T>G NP_001394669.1:p.Phe1647Val missense NM_001407741.1:c.4939T>G NP_001394670.1:p.Phe1647Val missense NM_001407742.1:c.4939T>G NP_001394671.1:p.Phe1647Val missense NM_001407743.1:c.4939T>G NP_001394672.1:p.Phe1647Val missense NM_001407744.1:c.4939T>G NP_001394673.1:p.Phe1647Val missense NM_001407745.1:c.4939T>G NP_001394674.1:p.Phe1647Val missense NM_001407746.1:c.4939T>G NP_001394675.1:p.Phe1647Val missense NM_001407747.1:c.4939T>G NP_001394676.1:p.Phe1647Val missense NM_001407748.1:c.4939T>G NP_001394677.1:p.Phe1647Val missense NM_001407749.1:c.4939T>G NP_001394678.1:p.Phe1647Val missense NM_001407750.1:c.4939T>G NP_001394679.1:p.Phe1647Val missense NM_001407751.1:c.4939T>G NP_001394680.1:p.Phe1647Val missense NM_001407752.1:c.4939T>G NP_001394681.1:p.Phe1647Val missense NM_001407838.1:c.4936T>G NP_001394767.1:p.Phe1646Val missense NM_001407839.1:c.4936T>G NP_001394768.1:p.Phe1646Val missense NM_001407841.1:c.4936T>G NP_001394770.1:p.Phe1646Val missense NM_001407842.1:c.4936T>G NP_001394771.1:p.Phe1646Val missense NM_001407843.1:c.4936T>G NP_001394772.1:p.Phe1646Val missense NM_001407844.1:c.4936T>G NP_001394773.1:p.Phe1646Val missense NM_001407845.1:c.4936T>G NP_001394774.1:p.Phe1646Val missense NM_001407846.1:c.4936T>G NP_001394775.1:p.Phe1646Val missense NM_001407847.1:c.4936T>G NP_001394776.1:p.Phe1646Val missense NM_001407848.1:c.4936T>G NP_001394777.1:p.Phe1646Val missense NM_001407849.1:c.4936T>G NP_001394778.1:p.Phe1646Val missense NM_001407850.1:c.4936T>G NP_001394779.1:p.Phe1646Val missense NM_001407851.1:c.4936T>G NP_001394780.1:p.Phe1646Val missense NM_001407852.1:c.4936T>G NP_001394781.1:p.Phe1646Val missense NM_001407853.1:c.4936T>G NP_001394782.1:p.Phe1646Val missense NM_001407854.1:c.5083T>G NP_001394783.1:p.Phe1695Val missense NM_001407858.1:c.5080T>G NP_001394787.1:p.Phe1694Val missense NM_001407859.1:c.5080T>G NP_001394788.1:p.Phe1694Val missense NM_001407860.1:c.5080T>G NP_001394789.1:p.Phe1694Val missense NM_001407861.1:c.5077T>G NP_001394790.1:p.Phe1693Val missense NM_001407862.1:c.4882T>G NP_001394791.1:p.Phe1628Val missense NM_001407874.1:c.4876T>G NP_001394803.1:p.Phe1626Val missense NM_001407875.1:c.4876T>G NP_001394804.1:p.Phe1626Val missense NM_001407879.1:c.4873T>G NP_001394808.1:p.Phe1625Val missense NM_001407881.1:c.4873T>G NP_001394810.1:p.Phe1625Val missense NM_001407882.1:c.4873T>G NP_001394811.1:p.Phe1625Val missense NM_001407884.1:c.4873T>G NP_001394813.1:p.Phe1625Val missense NM_001407885.1:c.4873T>G NP_001394814.1:p.Phe1625Val missense NM_001407886.1:c.4873T>G NP_001394815.1:p.Phe1625Val missense NM_001407887.1:c.4873T>G NP_001394816.1:p.Phe1625Val missense NM_001407889.1:c.4873T>G NP_001394818.1:p.Phe1625Val missense NM_001407894.1:c.4870T>G NP_001394823.1:p.Phe1624Val missense NM_001407895.1:c.4870T>G NP_001394824.1:p.Phe1624Val missense NM_001407896.1:c.4870T>G NP_001394825.1:p.Phe1624Val missense NM_001407897.1:c.4870T>G NP_001394826.1:p.Phe1624Val missense NM_001407898.1:c.4870T>G NP_001394827.1:p.Phe1624Val missense NM_001407899.1:c.4870T>G NP_001394828.1:p.Phe1624Val missense NM_001407900.1:c.4870T>G NP_001394829.1:p.Phe1624Val missense NM_001407902.1:c.4870T>G NP_001394831.1:p.Phe1624Val missense NM_001407904.1:c.4870T>G NP_001394833.1:p.Phe1624Val missense NM_001407906.1:c.4870T>G NP_001394835.1:p.Phe1624Val missense NM_001407907.1:c.4870T>G NP_001394836.1:p.Phe1624Val missense NM_001407908.1:c.4870T>G NP_001394837.1:p.Phe1624Val missense NM_001407909.1:c.4870T>G NP_001394838.1:p.Phe1624Val missense NM_001407910.1:c.4870T>G NP_001394839.1:p.Phe1624Val missense NM_001407915.1:c.4867T>G NP_001394844.1:p.Phe1623Val missense NM_001407916.1:c.4867T>G NP_001394845.1:p.Phe1623Val missense NM_001407917.1:c.4867T>G NP_001394846.1:p.Phe1623Val missense NM_001407918.1:c.4867T>G NP_001394847.1:p.Phe1623Val missense NM_001407919.1:c.4960T>G NP_001394848.1:p.Phe1654Val missense NM_001407920.1:c.4819T>G NP_001394849.1:p.Phe1607Val missense NM_001407921.1:c.4819T>G NP_001394850.1:p.Phe1607Val missense NM_001407922.1:c.4819T>G NP_001394851.1:p.Phe1607Val missense NM_001407923.1:c.4819T>G NP_001394852.1:p.Phe1607Val missense NM_001407924.1:c.4819T>G NP_001394853.1:p.Phe1607Val missense NM_001407925.1:c.4819T>G NP_001394854.1:p.Phe1607Val missense NM_001407926.1:c.4819T>G NP_001394855.1:p.Phe1607Val missense NM_001407927.1:c.4816T>G NP_001394856.1:p.Phe1606Val missense NM_001407928.1:c.4816T>G NP_001394857.1:p.Phe1606Val missense NM_001407929.1:c.4816T>G NP_001394858.1:p.Phe1606Val missense NM_001407930.1:c.4816T>G NP_001394859.1:p.Phe1606Val missense NM_001407931.1:c.4816T>G NP_001394860.1:p.Phe1606Val missense NM_001407932.1:c.4816T>G NP_001394861.1:p.Phe1606Val missense NM_001407933.1:c.4816T>G NP_001394862.1:p.Phe1606Val missense NM_001407934.1:c.4813T>G NP_001394863.1:p.Phe1605Val missense NM_001407935.1:c.4813T>G NP_001394864.1:p.Phe1605Val missense NM_001407936.1:c.4813T>G NP_001394865.1:p.Phe1605Val missense NM_001407937.1:c.4960T>G NP_001394866.1:p.Phe1654Val missense NM_001407938.1:c.4960T>G NP_001394867.1:p.Phe1654Val missense NM_001407939.1:c.4957T>G NP_001394868.1:p.Phe1653Val missense NM_001407940.1:c.4957T>G NP_001394869.1:p.Phe1653Val missense NM_001407941.1:c.4954T>G NP_001394870.1:p.Phe1652Val missense NM_001407942.1:c.4942T>G NP_001394871.1:p.Phe1648Val missense NM_001407943.1:c.4939T>G NP_001394872.1:p.Phe1647Val missense NM_001407944.1:c.4939T>G NP_001394873.1:p.Phe1647Val missense NM_001407945.1:c.4939T>G NP_001394874.1:p.Phe1647Val missense NM_001407946.1:c.4750T>G NP_001394875.1:p.Phe1584Val missense NM_001407947.1:c.4750T>G NP_001394876.1:p.Phe1584Val missense NM_001407948.1:c.4750T>G NP_001394877.1:p.Phe1584Val missense NM_001407949.1:c.4750T>G NP_001394878.1:p.Phe1584Val missense NM_001407950.1:c.4747T>G NP_001394879.1:p.Phe1583Val missense NM_001407951.1:c.4747T>G NP_001394880.1:p.Phe1583Val missense NM_001407952.1:c.4747T>G NP_001394881.1:p.Phe1583Val missense NM_001407953.1:c.4747T>G NP_001394882.1:p.Phe1583Val missense NM_001407954.1:c.4747T>G NP_001394883.1:p.Phe1583Val missense NM_001407955.1:c.4747T>G NP_001394884.1:p.Phe1583Val missense NM_001407956.1:c.4744T>G NP_001394885.1:p.Phe1582Val missense NM_001407957.1:c.4744T>G NP_001394886.1:p.Phe1582Val missense NM_001407958.1:c.4744T>G NP_001394887.1:p.Phe1582Val missense NM_001407959.1:c.4702T>G NP_001394888.1:p.Phe1568Val missense NM_001407960.1:c.4699T>G NP_001394889.1:p.Phe1567Val missense NM_001407962.1:c.4699T>G NP_001394891.1:p.Phe1567Val missense NM_001407963.1:c.4696T>G NP_001394892.1:p.Phe1566Val missense NM_001407964.1:c.4621T>G NP_001394893.1:p.Phe1541Val missense NM_001407965.1:c.4576T>G NP_001394894.1:p.Phe1526Val missense NM_001407966.1:c.4195T>G NP_001394895.1:p.Phe1399Val missense NM_001407967.1:c.4192T>G NP_001394896.1:p.Phe1398Val missense NM_001407968.1:c.2479T>G NP_001394897.1:p.Phe827Val missense NM_001407969.1:c.2476T>G NP_001394898.1:p.Phe826Val missense NM_001407970.1:c.1840T>G NP_001394899.1:p.Phe614Val missense NM_001407971.1:c.1840T>G NP_001394900.1:p.Phe614Val missense NM_001407972.1:c.1837T>G NP_001394901.1:p.Phe613Val missense NM_001407973.1:c.1774T>G NP_001394902.1:p.Phe592Val missense NM_001407974.1:c.1774T>G NP_001394903.1:p.Phe592Val missense NM_001407975.1:c.1774T>G NP_001394904.1:p.Phe592Val missense NM_001407976.1:c.1774T>G NP_001394905.1:p.Phe592Val missense NM_001407977.1:c.1774T>G NP_001394906.1:p.Phe592Val missense NM_001407978.1:c.1774T>G NP_001394907.1:p.Phe592Val missense NM_001407979.1:c.1771T>G NP_001394908.1:p.Phe591Val missense NM_001407980.1:c.1771T>G NP_001394909.1:p.Phe591Val missense NM_001407981.1:c.1771T>G NP_001394910.1:p.Phe591Val missense NM_001407982.1:c.1771T>G NP_001394911.1:p.Phe591Val missense NM_001407983.1:c.1771T>G NP_001394912.1:p.Phe591Val missense NM_001407984.1:c.1771T>G NP_001394913.1:p.Phe591Val missense NM_001407985.1:c.1771T>G NP_001394914.1:p.Phe591Val missense NM_001407986.1:c.1771T>G NP_001394915.1:p.Phe591Val missense NM_001407990.1:c.1771T>G NP_001394919.1:p.Phe591Val missense NM_001407991.1:c.1771T>G NP_001394920.1:p.Phe591Val missense NM_001407992.1:c.1771T>G NP_001394921.1:p.Phe591Val missense NM_001407993.1:c.1771T>G NP_001394922.1:p.Phe591Val missense NM_001408392.1:c.1768T>G NP_001395321.1:p.Phe590Val missense NM_001408396.1:c.1768T>G NP_001395325.1:p.Phe590Val missense NM_001408397.1:c.1768T>G NP_001395326.1:p.Phe590Val missense NM_001408398.1:c.1768T>G NP_001395327.1:p.Phe590Val missense NM_001408399.1:c.1768T>G NP_001395328.1:p.Phe590Val missense NM_001408400.1:c.1768T>G NP_001395329.1:p.Phe590Val missense NM_001408401.1:c.1768T>G NP_001395330.1:p.Phe590Val missense NM_001408402.1:c.1768T>G NP_001395331.1:p.Phe590Val missense NM_001408403.1:c.1768T>G NP_001395332.1:p.Phe590Val missense NM_001408404.1:c.1768T>G NP_001395333.1:p.Phe590Val missense NM_001408406.1:c.1765T>G NP_001395335.1:p.Phe589Val missense NM_001408407.1:c.1765T>G NP_001395336.1:p.Phe589Val missense NM_001408408.1:c.1765T>G NP_001395337.1:p.Phe589Val missense NM_001408409.1:c.1762T>G NP_001395338.1:p.Phe588Val missense NM_001408410.1:c.1699T>G NP_001395339.1:p.Phe567Val missense NM_001408411.1:c.1696T>G NP_001395340.1:p.Phe566Val missense NM_001408412.1:c.1693T>G NP_001395341.1:p.Phe565Val missense NM_001408413.1:c.1693T>G NP_001395342.1:p.Phe565Val missense NM_001408414.1:c.1693T>G NP_001395343.1:p.Phe565Val missense NM_001408415.1:c.1693T>G NP_001395344.1:p.Phe565Val missense NM_001408416.1:c.1693T>G NP_001395345.1:p.Phe565Val missense NM_001408418.1:c.1657T>G NP_001395347.1:p.Phe553Val missense NM_001408419.1:c.1657T>G NP_001395348.1:p.Phe553Val missense NM_001408420.1:c.1657T>G NP_001395349.1:p.Phe553Val missense NM_001408421.1:c.1654T>G NP_001395350.1:p.Phe552Val missense NM_001408422.1:c.1654T>G NP_001395351.1:p.Phe552Val missense NM_001408423.1:c.1654T>G NP_001395352.1:p.Phe552Val missense NM_001408424.1:c.1654T>G NP_001395353.1:p.Phe552Val missense NM_001408425.1:c.1651T>G NP_001395354.1:p.Phe551Val missense NM_001408426.1:c.1651T>G NP_001395355.1:p.Phe551Val missense NM_001408427.1:c.1651T>G NP_001395356.1:p.Phe551Val missense NM_001408428.1:c.1651T>G NP_001395357.1:p.Phe551Val missense NM_001408429.1:c.1651T>G NP_001395358.1:p.Phe551Val missense NM_001408430.1:c.1651T>G NP_001395359.1:p.Phe551Val missense NM_001408431.1:c.1651T>G NP_001395360.1:p.Phe551Val missense NM_001408432.1:c.1648T>G NP_001395361.1:p.Phe550Val missense NM_001408433.1:c.1648T>G NP_001395362.1:p.Phe550Val missense NM_001408434.1:c.1648T>G NP_001395363.1:p.Phe550Val missense NM_001408435.1:c.1648T>G NP_001395364.1:p.Phe550Val missense NM_001408436.1:c.1648T>G NP_001395365.1:p.Phe550Val missense NM_001408437.1:c.1648T>G NP_001395366.1:p.Phe550Val missense NM_001408438.1:c.1648T>G NP_001395367.1:p.Phe550Val missense NM_001408439.1:c.1648T>G NP_001395368.1:p.Phe550Val missense NM_001408440.1:c.1648T>G NP_001395369.1:p.Phe550Val missense NM_001408441.1:c.1648T>G NP_001395370.1:p.Phe550Val missense NM_001408442.1:c.1648T>G NP_001395371.1:p.Phe550Val missense NM_001408443.1:c.1648T>G NP_001395372.1:p.Phe550Val missense NM_001408444.1:c.1648T>G NP_001395373.1:p.Phe550Val missense NM_001408445.1:c.1645T>G NP_001395374.1:p.Phe549Val missense NM_001408446.1:c.1645T>G NP_001395375.1:p.Phe549Val missense NM_001408447.1:c.1645T>G NP_001395376.1:p.Phe549Val missense NM_001408448.1:c.1645T>G NP_001395377.1:p.Phe549Val missense NM_001408450.1:c.1645T>G NP_001395379.1:p.Phe549Val missense NM_001408451.1:c.1639T>G NP_001395380.1:p.Phe547Val missense NM_001408452.1:c.1633T>G NP_001395381.1:p.Phe545Val missense NM_001408453.1:c.1633T>G NP_001395382.1:p.Phe545Val missense NM_001408454.1:c.1633T>G NP_001395383.1:p.Phe545Val missense NM_001408455.1:c.1633T>G NP_001395384.1:p.Phe545Val missense NM_001408456.1:c.1633T>G NP_001395385.1:p.Phe545Val missense NM_001408457.1:c.1633T>G NP_001395386.1:p.Phe545Val missense NM_001408458.1:c.1630T>G NP_001395387.1:p.Phe544Val missense NM_001408459.1:c.1630T>G NP_001395388.1:p.Phe544Val missense NM_001408460.1:c.1630T>G NP_001395389.1:p.Phe544Val missense NM_001408461.1:c.1630T>G NP_001395390.1:p.Phe544Val missense NM_001408462.1:c.1630T>G NP_001395391.1:p.Phe544Val missense NM_001408463.1:c.1630T>G NP_001395392.1:p.Phe544Val missense NM_001408464.1:c.1630T>G NP_001395393.1:p.Phe544Val missense NM_001408465.1:c.1630T>G NP_001395394.1:p.Phe544Val missense NM_001408466.1:c.1630T>G NP_001395395.1:p.Phe544Val missense NM_001408467.1:c.1630T>G NP_001395396.1:p.Phe544Val missense NM_001408468.1:c.1627T>G NP_001395397.1:p.Phe543Val missense NM_001408469.1:c.1627T>G NP_001395398.1:p.Phe543Val missense NM_001408470.1:c.1627T>G NP_001395399.1:p.Phe543Val missense NM_001408472.1:c.1771T>G NP_001395401.1:p.Phe591Val missense NM_001408473.1:c.1768T>G NP_001395402.1:p.Phe590Val missense NM_001408474.1:c.1573T>G NP_001395403.1:p.Phe525Val missense NM_001408475.1:c.1570T>G NP_001395404.1:p.Phe524Val missense NM_001408476.1:c.1570T>G NP_001395405.1:p.Phe524Val missense NM_001408478.1:c.1564T>G NP_001395407.1:p.Phe522Val missense NM_001408479.1:c.1564T>G NP_001395408.1:p.Phe522Val missense NM_001408480.1:c.1564T>G NP_001395409.1:p.Phe522Val missense NM_001408481.1:c.1561T>G NP_001395410.1:p.Phe521Val missense NM_001408482.1:c.1561T>G NP_001395411.1:p.Phe521Val missense NM_001408483.1:c.1561T>G NP_001395412.1:p.Phe521Val missense NM_001408484.1:c.1561T>G NP_001395413.1:p.Phe521Val missense NM_001408485.1:c.1561T>G NP_001395414.1:p.Phe521Val missense NM_001408489.1:c.1561T>G NP_001395418.1:p.Phe521Val missense NM_001408490.1:c.1561T>G NP_001395419.1:p.Phe521Val missense NM_001408491.1:c.1561T>G NP_001395420.1:p.Phe521Val missense NM_001408492.1:c.1558T>G NP_001395421.1:p.Phe520Val missense NM_001408493.1:c.1558T>G NP_001395422.1:p.Phe520Val missense NM_001408494.1:c.1534T>G NP_001395423.1:p.Phe512Val missense NM_001408495.1:c.1528T>G NP_001395424.1:p.Phe510Val missense NM_001408496.1:c.1510T>G NP_001395425.1:p.Phe504Val missense NM_001408497.1:c.1510T>G NP_001395426.1:p.Phe504Val missense NM_001408498.1:c.1510T>G NP_001395427.1:p.Phe504Val missense NM_001408499.1:c.1510T>G NP_001395428.1:p.Phe504Val missense NM_001408500.1:c.1510T>G NP_001395429.1:p.Phe504Val missense NM_001408501.1:c.1510T>G NP_001395430.1:p.Phe504Val missense NM_001408502.1:c.1507T>G NP_001395431.1:p.Phe503Val missense NM_001408503.1:c.1507T>G NP_001395432.1:p.Phe503Val missense NM_001408504.1:c.1507T>G NP_001395433.1:p.Phe503Val missense NM_001408505.1:c.1504T>G NP_001395434.1:p.Phe502Val missense NM_001408506.1:c.1447T>G NP_001395435.1:p.Phe483Val missense NM_001408507.1:c.1444T>G NP_001395436.1:p.Phe482Val missense NM_001408508.1:c.1435T>G NP_001395437.1:p.Phe479Val missense NM_001408509.1:c.1432T>G NP_001395438.1:p.Phe478Val missense NM_001408510.1:c.1393T>G NP_001395439.1:p.Phe465Val missense NM_001408511.1:c.1390T>G NP_001395440.1:p.Phe464Val missense NM_001408512.1:c.1270T>G NP_001395441.1:p.Phe424Val missense NM_001408513.1:c.1243T>G NP_001395442.1:p.Phe415Val missense NM_001408514.1:c.847T>G NP_001395443.1:p.Phe283Val missense NM_007297.4:c.4942T>G NP_009228.2:p.Phe1648Val missense NM_007298.4:c.1771T>G NP_009229.2:p.Phe591Val missense NM_007299.4:c.1771T>G NP_009230.2:p.Phe591Val missense NM_007300.4:c.5146T>G NP_009231.2:p.Phe1716Val missense NM_007304.2:c.1771T>G NP_009235.2:p.Phe591Val missense NR_027676.2:n.5260T>G non-coding transcript variant NC_000017.11:g.43063943A>C NC_000017.10:g.41215960A>C NG_005905.2:g.154041T>G LRG_292:g.154041T>G LRG_292t1:c.5083T>G LRG_292p1:p.Phe1695Val - Protein change
- F1695V, F591V, F1716V, F1648V, F614V, F827V, F1583V, F1605V, F1625V, F1647V, F1669V, F1675V, F1676V, F1690V, F1691V, F483V, F502V, F520V, F525V, F550V, F551V, F552V, F588V, F1568V, F1582V, F1607V, F1624V, F1628V, F1652V, F1668V, F479V, F482V, F521V, F544V, F590V, F1398V, F1399V, F1566V, F1567V, F1584V, F1626V, F1653V, F1654V, F1667V, F1693V, F1694V, F464V, F503V, F510V, F512V, F524V, F543V, F545V, F547V, F549V, F565V, F566V, F567V, F592V, F613V, F826V, F1526V, F1541V, F1606V, F1623V, F1646V, F1651V, F1692V, F1715V, F1717V, F283V, F415V, F424V, F465V, F478V, F504V, F522V, F553V, F589V
- Other names
- -
- Canonical SPDI
- NC_000017.11:43063942:A:C
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- functionally_abnormal Sequence Ontology [SO:0002218]
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5083T>G, a MISSENSE variant, produced a function score of -1.8, 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. [submitted by Brotman Baty Institute, University of Washington]
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
---|---|---|---|---|---|---|
HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12795 | 14565 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Pathogenic (2) |
no assertion criteria provided
|
- | RCV001078030.3 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
---|---|---|---|---|---|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Center for Translational Medicine, First Affiliated Hospital of Xi'an Jiaotong University
Accession: SCV002026145.1
First in ClinVar: Nov 29, 2021 Last updated: Nov 29, 2021 |
Clinical Features:
Ovarian carcinoma (present)
Age: 50-59 years
Sex: female
|
|
not provided
(-)
|
no classification provided
Method: in vitro
|
Breast-ovarian cancer, familial 1
Affected status: not applicable
Allele origin:
not applicable
|
Brotman Baty Institute, University of Washington
Accession: SCV001244061.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
LOSS_OF_FUNCTION:-1.80194590499926
|
Germline Functional Evidence
Functional
Help
The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence |
Method
Help
A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter. |
Result
Help
A brief description of the result of this method for this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
---|---|---|---|---|
functionally_abnormal
|
Method citation(s):
|
|
Brotman Baty Institute, University of Washington
Accession: SCV001244061.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5083T>G, a MISSENSE variant, produced a function score of -1.8, corresponding to a functional classification of LOSS_OF_FUNCTION. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5083T>G, a MISSENSE variant, produced a function score of -1.8, 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. (less)
|
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Accurate classification of BRCA1 variants with saturation genome editing. | Findlay GM | Nature | 2018 | PMID: 30209399 |
https://sge.gs.washington.edu/BRCA1/ | - | - | - | - |
Text-mined citations for rs2051934276 ...
HelpRecord last updated Mar 30, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.