ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5360G>T (p.Cys1787Phe)
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
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NM_007294.4(BRCA1):c.5360G>T (p.Cys1787Phe)
Variation ID: 865658 Accession: VCV000865658.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43049167 (GRCh38) [ NCBI UCSC ] 17: 41201184 (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 Apr 18, 2020 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.5360G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Cys1787Phe missense NM_001407571.1:c.5147G>T NP_001394500.1:p.Cys1716Phe missense NM_001407581.1:c.5426G>T NP_001394510.1:p.Cys1809Phe missense NM_001407582.1:c.5426G>T NP_001394511.1:p.Cys1809Phe missense NM_001407583.1:c.5423G>T NP_001394512.1:p.Cys1808Phe missense NM_001407585.1:c.5423G>T NP_001394514.1:p.Cys1808Phe missense NM_001407587.1:c.5423G>T NP_001394516.1:p.Cys1808Phe missense NM_001407590.1:c.5420G>T NP_001394519.1:p.Cys1807Phe missense NM_001407591.1:c.5420G>T NP_001394520.1:p.Cys1807Phe missense NM_001407593.1:c.5360G>T NP_001394522.1:p.Cys1787Phe missense NM_001407594.1:c.5360G>T NP_001394523.1:p.Cys1787Phe missense NM_001407596.1:c.5360G>T NP_001394525.1:p.Cys1787Phe missense NM_001407597.1:c.5360G>T NP_001394526.1:p.Cys1787Phe missense NM_001407598.1:c.5360G>T NP_001394527.1:p.Cys1787Phe missense NM_001407602.1:c.5360G>T NP_001394531.1:p.Cys1787Phe missense NM_001407603.1:c.5360G>T NP_001394532.1:p.Cys1787Phe missense NM_001407605.1:c.5360G>T NP_001394534.1:p.Cys1787Phe missense NM_001407610.1:c.5357G>T NP_001394539.1:p.Cys1786Phe missense NM_001407611.1:c.5357G>T NP_001394540.1:p.Cys1786Phe missense NM_001407612.1:c.5357G>T NP_001394541.1:p.Cys1786Phe missense NM_001407613.1:c.5357G>T NP_001394542.1:p.Cys1786Phe missense NM_001407614.1:c.5357G>T NP_001394543.1:p.Cys1786Phe missense NM_001407615.1:c.5357G>T NP_001394544.1:p.Cys1786Phe missense NM_001407616.1:c.5357G>T NP_001394545.1:p.Cys1786Phe missense NM_001407617.1:c.5357G>T NP_001394546.1:p.Cys1786Phe missense NM_001407618.1:c.5357G>T NP_001394547.1:p.Cys1786Phe missense NM_001407619.1:c.5357G>T NP_001394548.1:p.Cys1786Phe missense NM_001407620.1:c.5357G>T NP_001394549.1:p.Cys1786Phe missense NM_001407621.1:c.5357G>T NP_001394550.1:p.Cys1786Phe missense NM_001407622.1:c.5357G>T NP_001394551.1:p.Cys1786Phe missense NM_001407623.1:c.5357G>T NP_001394552.1:p.Cys1786Phe missense NM_001407624.1:c.5357G>T NP_001394553.1:p.Cys1786Phe missense NM_001407625.1:c.5357G>T NP_001394554.1:p.Cys1786Phe missense NM_001407626.1:c.5357G>T NP_001394555.1:p.Cys1786Phe missense NM_001407627.1:c.5354G>T NP_001394556.1:p.Cys1785Phe missense NM_001407628.1:c.5354G>T NP_001394557.1:p.Cys1785Phe missense NM_001407629.1:c.5354G>T NP_001394558.1:p.Cys1785Phe missense NM_001407630.1:c.5354G>T NP_001394559.1:p.Cys1785Phe missense NM_001407631.1:c.5354G>T NP_001394560.1:p.Cys1785Phe missense NM_001407632.1:c.5354G>T NP_001394561.1:p.Cys1785Phe missense NM_001407633.1:c.5354G>T NP_001394562.1:p.Cys1785Phe missense NM_001407634.1:c.5354G>T NP_001394563.1:p.Cys1785Phe missense NM_001407635.1:c.5354G>T NP_001394564.1:p.Cys1785Phe missense NM_001407636.1:c.5354G>T NP_001394565.1:p.Cys1785Phe missense NM_001407637.1:c.5354G>T NP_001394566.1:p.Cys1785Phe missense NM_001407638.1:c.5354G>T NP_001394567.1:p.Cys1785Phe missense NM_001407639.1:c.5354G>T NP_001394568.1:p.Cys1785Phe missense NM_001407640.1:c.5354G>T NP_001394569.1:p.Cys1785Phe missense NM_001407641.1:c.5354G>T NP_001394570.1:p.Cys1785Phe missense NM_001407642.1:c.5354G>T NP_001394571.1:p.Cys1785Phe missense NM_001407644.1:c.5351G>T NP_001394573.1:p.Cys1784Phe missense NM_001407645.1:c.5351G>T NP_001394574.1:p.Cys1784Phe missense NM_001407646.1:c.5348G>T NP_001394575.1:p.Cys1783Phe missense NM_001407647.1:c.5345G>T NP_001394576.1:p.Cys1782Phe missense NM_001407648.1:c.5303G>T NP_001394577.1:p.Cys1768Phe missense NM_001407649.1:c.5300G>T NP_001394578.1:p.Cys1767Phe missense NM_001407652.1:c.5282G>T NP_001394581.1:p.Cys1761Phe missense NM_001407653.1:c.5282G>T NP_001394582.1:p.Cys1761Phe missense NM_001407654.1:c.5282G>T NP_001394583.1:p.Cys1761Phe missense NM_001407655.1:c.5282G>T NP_001394584.1:p.Cys1761Phe missense NM_001407656.1:c.5279G>T NP_001394585.1:p.Cys1760Phe missense NM_001407657.1:c.5279G>T NP_001394586.1:p.Cys1760Phe missense NM_001407658.1:c.5279G>T NP_001394587.1:p.Cys1760Phe missense NM_001407659.1:c.5276G>T NP_001394588.1:p.Cys1759Phe missense NM_001407660.1:c.5276G>T NP_001394589.1:p.Cys1759Phe missense NM_001407661.1:c.5276G>T NP_001394590.1:p.Cys1759Phe missense NM_001407662.1:c.5276G>T NP_001394591.1:p.Cys1759Phe missense NM_001407663.1:c.5276G>T NP_001394592.1:p.Cys1759Phe missense NM_001407664.1:c.5237G>T NP_001394593.1:p.Cys1746Phe missense NM_001407665.1:c.5237G>T NP_001394594.1:p.Cys1746Phe missense NM_001407666.1:c.5237G>T NP_001394595.1:p.Cys1746Phe missense NM_001407667.1:c.5237G>T NP_001394596.1:p.Cys1746Phe missense NM_001407668.1:c.5237G>T NP_001394597.1:p.Cys1746Phe missense NM_001407669.1:c.5237G>T NP_001394598.1:p.Cys1746Phe missense NM_001407670.1:c.5234G>T NP_001394599.1:p.Cys1745Phe missense NM_001407671.1:c.5234G>T NP_001394600.1:p.Cys1745Phe missense NM_001407672.1:c.5234G>T NP_001394601.1:p.Cys1745Phe missense NM_001407673.1:c.5234G>T NP_001394602.1:p.Cys1745Phe missense NM_001407674.1:c.5234G>T NP_001394603.1:p.Cys1745Phe missense NM_001407675.1:c.5234G>T NP_001394604.1:p.Cys1745Phe missense NM_001407676.1:c.5234G>T NP_001394605.1:p.Cys1745Phe missense NM_001407677.1:c.5234G>T NP_001394606.1:p.Cys1745Phe missense NM_001407678.1:c.5234G>T NP_001394607.1:p.Cys1745Phe missense NM_001407679.1:c.5234G>T NP_001394608.1:p.Cys1745Phe missense NM_001407680.1:c.5234G>T NP_001394609.1:p.Cys1745Phe missense NM_001407681.1:c.5231G>T NP_001394610.1:p.Cys1744Phe missense NM_001407682.1:c.5231G>T NP_001394611.1:p.Cys1744Phe missense NM_001407683.1:c.5231G>T NP_001394612.1:p.Cys1744Phe missense NM_001407685.1:c.5231G>T NP_001394614.1:p.Cys1744Phe missense NM_001407686.1:c.5231G>T NP_001394615.1:p.Cys1744Phe missense NM_001407687.1:c.5231G>T NP_001394616.1:p.Cys1744Phe missense NM_001407688.1:c.5231G>T NP_001394617.1:p.Cys1744Phe missense NM_001407689.1:c.5231G>T NP_001394618.1:p.Cys1744Phe missense NM_001407690.1:c.5228G>T NP_001394619.1:p.Cys1743Phe missense NM_001407691.1:c.5228G>T NP_001394620.1:p.Cys1743Phe missense NM_001407692.1:c.5219G>T NP_001394621.1:p.Cys1740Phe missense NM_001407694.1:c.5219G>T NP_001394623.1:p.Cys1740Phe missense NM_001407695.1:c.5219G>T NP_001394624.1:p.Cys1740Phe missense NM_001407696.1:c.5219G>T NP_001394625.1:p.Cys1740Phe missense NM_001407697.1:c.5219G>T NP_001394626.1:p.Cys1740Phe missense NM_001407698.1:c.5219G>T NP_001394627.1:p.Cys1740Phe missense NM_001407724.1:c.5219G>T NP_001394653.1:p.Cys1740Phe missense NM_001407725.1:c.5219G>T NP_001394654.1:p.Cys1740Phe missense NM_001407726.1:c.5219G>T NP_001394655.1:p.Cys1740Phe missense NM_001407727.1:c.5219G>T NP_001394656.1:p.Cys1740Phe missense NM_001407728.1:c.5219G>T NP_001394657.1:p.Cys1740Phe missense NM_001407729.1:c.5219G>T NP_001394658.1:p.Cys1740Phe missense NM_001407730.1:c.5219G>T NP_001394659.1:p.Cys1740Phe missense NM_001407731.1:c.5219G>T NP_001394660.1:p.Cys1740Phe missense NM_001407732.1:c.5216G>T NP_001394661.1:p.Cys1739Phe missense NM_001407733.1:c.5216G>T NP_001394662.1:p.Cys1739Phe missense NM_001407734.1:c.5216G>T NP_001394663.1:p.Cys1739Phe missense NM_001407735.1:c.5216G>T NP_001394664.1:p.Cys1739Phe missense NM_001407736.1:c.5216G>T NP_001394665.1:p.Cys1739Phe missense NM_001407737.1:c.5216G>T NP_001394666.1:p.Cys1739Phe missense NM_001407738.1:c.5216G>T NP_001394667.1:p.Cys1739Phe missense NM_001407739.1:c.5216G>T NP_001394668.1:p.Cys1739Phe missense NM_001407740.1:c.5216G>T NP_001394669.1:p.Cys1739Phe missense NM_001407741.1:c.5216G>T NP_001394670.1:p.Cys1739Phe missense NM_001407742.1:c.5216G>T NP_001394671.1:p.Cys1739Phe missense NM_001407743.1:c.5216G>T NP_001394672.1:p.Cys1739Phe missense NM_001407744.1:c.5216G>T NP_001394673.1:p.Cys1739Phe missense NM_001407745.1:c.5216G>T NP_001394674.1:p.Cys1739Phe missense NM_001407746.1:c.5216G>T NP_001394675.1:p.Cys1739Phe missense NM_001407747.1:c.5216G>T NP_001394676.1:p.Cys1739Phe missense NM_001407748.1:c.5216G>T NP_001394677.1:p.Cys1739Phe missense NM_001407749.1:c.5216G>T NP_001394678.1:p.Cys1739Phe missense NM_001407750.1:c.5216G>T NP_001394679.1:p.Cys1739Phe missense NM_001407751.1:c.5216G>T NP_001394680.1:p.Cys1739Phe missense NM_001407752.1:c.5216G>T NP_001394681.1:p.Cys1739Phe missense NM_001407838.1:c.5213G>T NP_001394767.1:p.Cys1738Phe missense NM_001407839.1:c.5213G>T NP_001394768.1:p.Cys1738Phe missense NM_001407841.1:c.5213G>T NP_001394770.1:p.Cys1738Phe missense NM_001407842.1:c.5213G>T NP_001394771.1:p.Cys1738Phe missense NM_001407843.1:c.5213G>T NP_001394772.1:p.Cys1738Phe missense NM_001407844.1:c.5213G>T NP_001394773.1:p.Cys1738Phe missense NM_001407845.1:c.5213G>T NP_001394774.1:p.Cys1738Phe missense NM_001407846.1:c.5213G>T NP_001394775.1:p.Cys1738Phe missense NM_001407847.1:c.5213G>T NP_001394776.1:p.Cys1738Phe missense NM_001407848.1:c.5213G>T NP_001394777.1:p.Cys1738Phe missense NM_001407849.1:c.5213G>T NP_001394778.1:p.Cys1738Phe missense NM_001407850.1:c.5213G>T NP_001394779.1:p.Cys1738Phe missense NM_001407851.1:c.5213G>T NP_001394780.1:p.Cys1738Phe missense NM_001407852.1:c.5213G>T NP_001394781.1:p.Cys1738Phe missense NM_001407853.1:c.5213G>T NP_001394782.1:p.Cys1738Phe missense NM_001407862.1:c.5159G>T NP_001394791.1:p.Cys1720Phe missense NM_001407863.1:c.5156G>T NP_001394792.1:p.Cys1719Phe missense NM_001407874.1:c.5153G>T NP_001394803.1:p.Cys1718Phe missense NM_001407875.1:c.5153G>T NP_001394804.1:p.Cys1718Phe missense NM_001407879.1:c.5150G>T NP_001394808.1:p.Cys1717Phe missense NM_001407881.1:c.5150G>T NP_001394810.1:p.Cys1717Phe missense NM_001407882.1:c.5150G>T NP_001394811.1:p.Cys1717Phe missense NM_001407884.1:c.5150G>T NP_001394813.1:p.Cys1717Phe missense NM_001407885.1:c.5150G>T NP_001394814.1:p.Cys1717Phe missense NM_001407886.1:c.5150G>T NP_001394815.1:p.Cys1717Phe missense NM_001407887.1:c.5150G>T NP_001394816.1:p.Cys1717Phe missense NM_001407889.1:c.5150G>T NP_001394818.1:p.Cys1717Phe missense NM_001407894.1:c.5147G>T NP_001394823.1:p.Cys1716Phe missense NM_001407895.1:c.5147G>T NP_001394824.1:p.Cys1716Phe missense NM_001407896.1:c.5147G>T NP_001394825.1:p.Cys1716Phe missense NM_001407897.1:c.5147G>T NP_001394826.1:p.Cys1716Phe missense NM_001407898.1:c.5147G>T NP_001394827.1:p.Cys1716Phe missense NM_001407899.1:c.5147G>T NP_001394828.1:p.Cys1716Phe missense NM_001407900.1:c.5147G>T NP_001394829.1:p.Cys1716Phe missense NM_001407902.1:c.5147G>T NP_001394831.1:p.Cys1716Phe missense NM_001407904.1:c.5147G>T NP_001394833.1:p.Cys1716Phe missense NM_001407906.1:c.5147G>T NP_001394835.1:p.Cys1716Phe missense NM_001407907.1:c.5147G>T NP_001394836.1:p.Cys1716Phe missense NM_001407908.1:c.5147G>T NP_001394837.1:p.Cys1716Phe missense NM_001407909.1:c.5147G>T NP_001394838.1:p.Cys1716Phe missense NM_001407910.1:c.5147G>T NP_001394839.1:p.Cys1716Phe missense NM_001407915.1:c.5144G>T NP_001394844.1:p.Cys1715Phe missense NM_001407916.1:c.5144G>T NP_001394845.1:p.Cys1715Phe missense NM_001407917.1:c.5144G>T NP_001394846.1:p.Cys1715Phe missense NM_001407918.1:c.5144G>T NP_001394847.1:p.Cys1715Phe missense NM_001407920.1:c.5096G>T NP_001394849.1:p.Cys1699Phe missense NM_001407921.1:c.5096G>T NP_001394850.1:p.Cys1699Phe missense NM_001407922.1:c.5096G>T NP_001394851.1:p.Cys1699Phe missense NM_001407923.1:c.5096G>T NP_001394852.1:p.Cys1699Phe missense NM_001407924.1:c.5096G>T NP_001394853.1:p.Cys1699Phe missense NM_001407925.1:c.5096G>T NP_001394854.1:p.Cys1699Phe missense NM_001407926.1:c.5096G>T NP_001394855.1:p.Cys1699Phe missense NM_001407927.1:c.5093G>T NP_001394856.1:p.Cys1698Phe missense NM_001407928.1:c.5093G>T NP_001394857.1:p.Cys1698Phe missense NM_001407929.1:c.5093G>T NP_001394858.1:p.Cys1698Phe missense NM_001407930.1:c.5093G>T NP_001394859.1:p.Cys1698Phe missense NM_001407931.1:c.5093G>T NP_001394860.1:p.Cys1698Phe missense NM_001407932.1:c.5093G>T NP_001394861.1:p.Cys1698Phe missense NM_001407933.1:c.5093G>T NP_001394862.1:p.Cys1698Phe missense NM_001407934.1:c.5090G>T NP_001394863.1:p.Cys1697Phe missense NM_001407935.1:c.5090G>T NP_001394864.1:p.Cys1697Phe missense NM_001407936.1:c.5090G>T NP_001394865.1:p.Cys1697Phe missense NM_001407946.1:c.5027G>T NP_001394875.1:p.Cys1676Phe missense NM_001407947.1:c.5027G>T NP_001394876.1:p.Cys1676Phe missense NM_001407948.1:c.5027G>T NP_001394877.1:p.Cys1676Phe missense NM_001407949.1:c.5027G>T NP_001394878.1:p.Cys1676Phe missense NM_001407950.1:c.5024G>T NP_001394879.1:p.Cys1675Phe missense NM_001407951.1:c.5024G>T NP_001394880.1:p.Cys1675Phe missense NM_001407952.1:c.5024G>T NP_001394881.1:p.Cys1675Phe missense NM_001407953.1:c.5024G>T NP_001394882.1:p.Cys1675Phe missense NM_001407954.1:c.5024G>T NP_001394883.1:p.Cys1675Phe missense NM_001407955.1:c.5024G>T NP_001394884.1:p.Cys1675Phe missense NM_001407956.1:c.5021G>T NP_001394885.1:p.Cys1674Phe missense NM_001407957.1:c.5021G>T NP_001394886.1:p.Cys1674Phe missense NM_001407958.1:c.5021G>T NP_001394887.1:p.Cys1674Phe missense NM_001407959.1:c.4979G>T NP_001394888.1:p.Cys1660Phe missense NM_001407960.1:c.4976G>T NP_001394889.1:p.Cys1659Phe missense NM_001407962.1:c.4976G>T NP_001394891.1:p.Cys1659Phe missense NM_001407963.1:c.4973G>T NP_001394892.1:p.Cys1658Phe missense NM_001407964.1:c.4898G>T NP_001394893.1:p.Cys1633Phe missense NM_001407965.1:c.4853G>T NP_001394894.1:p.Cys1618Phe missense NM_001407966.1:c.4472G>T NP_001394895.1:p.Cys1491Phe missense NM_001407967.1:c.4469G>T NP_001394896.1:p.Cys1490Phe missense NM_001407968.1:c.2756G>T NP_001394897.1:p.Cys919Phe missense NM_001407969.1:c.2753G>T NP_001394898.1:p.Cys918Phe missense NM_001407970.1:c.2117G>T NP_001394899.1:p.Cys706Phe missense NM_001407971.1:c.2117G>T NP_001394900.1:p.Cys706Phe missense NM_001407972.1:c.2114G>T NP_001394901.1:p.Cys705Phe missense NM_001407973.1:c.2051G>T NP_001394902.1:p.Cys684Phe missense NM_001407974.1:c.2051G>T NP_001394903.1:p.Cys684Phe missense NM_001407975.1:c.2051G>T NP_001394904.1:p.Cys684Phe missense NM_001407976.1:c.2051G>T NP_001394905.1:p.Cys684Phe missense NM_001407977.1:c.2051G>T NP_001394906.1:p.Cys684Phe missense NM_001407978.1:c.2051G>T NP_001394907.1:p.Cys684Phe missense NM_001407979.1:c.2048G>T NP_001394908.1:p.Cys683Phe missense NM_001407980.1:c.2048G>T NP_001394909.1:p.Cys683Phe missense NM_001407981.1:c.2048G>T NP_001394910.1:p.Cys683Phe missense NM_001407982.1:c.2048G>T NP_001394911.1:p.Cys683Phe missense NM_001407983.1:c.2048G>T NP_001394912.1:p.Cys683Phe missense NM_001407984.1:c.2048G>T NP_001394913.1:p.Cys683Phe missense NM_001407985.1:c.2048G>T NP_001394914.1:p.Cys683Phe missense NM_001407986.1:c.2048G>T NP_001394915.1:p.Cys683Phe missense NM_001407990.1:c.2048G>T NP_001394919.1:p.Cys683Phe missense NM_001407991.1:c.2048G>T NP_001394920.1:p.Cys683Phe missense NM_001407992.1:c.2048G>T NP_001394921.1:p.Cys683Phe missense NM_001407993.1:c.2048G>T NP_001394922.1:p.Cys683Phe missense NM_001408392.1:c.2045G>T NP_001395321.1:p.Cys682Phe missense NM_001408396.1:c.2045G>T NP_001395325.1:p.Cys682Phe missense NM_001408397.1:c.2045G>T NP_001395326.1:p.Cys682Phe missense NM_001408398.1:c.2045G>T NP_001395327.1:p.Cys682Phe missense NM_001408399.1:c.2045G>T NP_001395328.1:p.Cys682Phe missense NM_001408400.1:c.2045G>T NP_001395329.1:p.Cys682Phe missense NM_001408401.1:c.2045G>T NP_001395330.1:p.Cys682Phe missense NM_001408402.1:c.2045G>T NP_001395331.1:p.Cys682Phe missense NM_001408403.1:c.2045G>T NP_001395332.1:p.Cys682Phe missense NM_001408404.1:c.2045G>T NP_001395333.1:p.Cys682Phe missense NM_001408406.1:c.2042G>T NP_001395335.1:p.Cys681Phe missense NM_001408407.1:c.2042G>T NP_001395336.1:p.Cys681Phe missense NM_001408408.1:c.2042G>T NP_001395337.1:p.Cys681Phe missense NM_001408409.1:c.2039G>T NP_001395338.1:p.Cys680Phe missense NM_001408410.1:c.1976G>T NP_001395339.1:p.Cys659Phe missense NM_001408411.1:c.1973G>T NP_001395340.1:p.Cys658Phe missense NM_001408412.1:c.1970G>T NP_001395341.1:p.Cys657Phe missense NM_001408413.1:c.1970G>T NP_001395342.1:p.Cys657Phe missense NM_001408414.1:c.1970G>T NP_001395343.1:p.Cys657Phe missense NM_001408415.1:c.1970G>T NP_001395344.1:p.Cys657Phe missense NM_001408416.1:c.1970G>T NP_001395345.1:p.Cys657Phe missense NM_001408418.1:c.1934G>T NP_001395347.1:p.Cys645Phe missense NM_001408419.1:c.1934G>T NP_001395348.1:p.Cys645Phe missense NM_001408420.1:c.1934G>T NP_001395349.1:p.Cys645Phe missense NM_001408421.1:c.1931G>T NP_001395350.1:p.Cys644Phe missense NM_001408422.1:c.1931G>T NP_001395351.1:p.Cys644Phe missense NM_001408423.1:c.1931G>T NP_001395352.1:p.Cys644Phe missense NM_001408424.1:c.1931G>T NP_001395353.1:p.Cys644Phe missense NM_001408425.1:c.1928G>T NP_001395354.1:p.Cys643Phe missense NM_001408426.1:c.1928G>T NP_001395355.1:p.Cys643Phe missense NM_001408427.1:c.1928G>T NP_001395356.1:p.Cys643Phe missense NM_001408428.1:c.1928G>T NP_001395357.1:p.Cys643Phe missense NM_001408429.1:c.1928G>T NP_001395358.1:p.Cys643Phe missense NM_001408430.1:c.1928G>T NP_001395359.1:p.Cys643Phe missense NM_001408431.1:c.1928G>T NP_001395360.1:p.Cys643Phe missense NM_001408432.1:c.1925G>T NP_001395361.1:p.Cys642Phe missense NM_001408433.1:c.1925G>T NP_001395362.1:p.Cys642Phe missense NM_001408434.1:c.1925G>T NP_001395363.1:p.Cys642Phe missense NM_001408435.1:c.1925G>T NP_001395364.1:p.Cys642Phe missense NM_001408436.1:c.1925G>T NP_001395365.1:p.Cys642Phe missense NM_001408437.1:c.1925G>T NP_001395366.1:p.Cys642Phe missense NM_001408438.1:c.1925G>T NP_001395367.1:p.Cys642Phe missense NM_001408439.1:c.1925G>T NP_001395368.1:p.Cys642Phe missense NM_001408440.1:c.1925G>T NP_001395369.1:p.Cys642Phe missense NM_001408441.1:c.1925G>T NP_001395370.1:p.Cys642Phe missense NM_001408442.1:c.1925G>T NP_001395371.1:p.Cys642Phe missense NM_001408443.1:c.1925G>T NP_001395372.1:p.Cys642Phe missense NM_001408444.1:c.1925G>T NP_001395373.1:p.Cys642Phe missense NM_001408445.1:c.1922G>T NP_001395374.1:p.Cys641Phe missense NM_001408446.1:c.1922G>T NP_001395375.1:p.Cys641Phe missense NM_001408447.1:c.1922G>T NP_001395376.1:p.Cys641Phe missense NM_001408448.1:c.1922G>T NP_001395377.1:p.Cys641Phe missense NM_001408450.1:c.1922G>T NP_001395379.1:p.Cys641Phe missense NM_001408451.1:c.1916G>T NP_001395380.1:p.Cys639Phe missense NM_001408452.1:c.1910G>T NP_001395381.1:p.Cys637Phe missense NM_001408453.1:c.1910G>T NP_001395382.1:p.Cys637Phe missense NM_001408454.1:c.1910G>T NP_001395383.1:p.Cys637Phe missense NM_001408455.1:c.1910G>T NP_001395384.1:p.Cys637Phe missense NM_001408456.1:c.1910G>T NP_001395385.1:p.Cys637Phe missense NM_001408457.1:c.1910G>T NP_001395386.1:p.Cys637Phe missense NM_001408458.1:c.1907G>T NP_001395387.1:p.Cys636Phe missense NM_001408459.1:c.1907G>T NP_001395388.1:p.Cys636Phe missense NM_001408460.1:c.1907G>T NP_001395389.1:p.Cys636Phe missense NM_001408461.1:c.1907G>T NP_001395390.1:p.Cys636Phe missense NM_001408462.1:c.1907G>T NP_001395391.1:p.Cys636Phe missense NM_001408463.1:c.1907G>T NP_001395392.1:p.Cys636Phe missense NM_001408464.1:c.1907G>T NP_001395393.1:p.Cys636Phe missense NM_001408465.1:c.1907G>T NP_001395394.1:p.Cys636Phe missense NM_001408466.1:c.1907G>T NP_001395395.1:p.Cys636Phe missense NM_001408467.1:c.1907G>T NP_001395396.1:p.Cys636Phe missense NM_001408468.1:c.1904G>T NP_001395397.1:p.Cys635Phe missense NM_001408469.1:c.1904G>T NP_001395398.1:p.Cys635Phe missense NM_001408470.1:c.1904G>T NP_001395399.1:p.Cys635Phe missense NM_001408474.1:c.1850G>T NP_001395403.1:p.Cys617Phe missense NM_001408475.1:c.1847G>T NP_001395404.1:p.Cys616Phe missense NM_001408476.1:c.1847G>T NP_001395405.1:p.Cys616Phe missense NM_001408478.1:c.1841G>T NP_001395407.1:p.Cys614Phe missense NM_001408479.1:c.1841G>T NP_001395408.1:p.Cys614Phe missense NM_001408480.1:c.1841G>T NP_001395409.1:p.Cys614Phe missense NM_001408481.1:c.1838G>T NP_001395410.1:p.Cys613Phe missense NM_001408482.1:c.1838G>T NP_001395411.1:p.Cys613Phe missense NM_001408483.1:c.1838G>T NP_001395412.1:p.Cys613Phe missense NM_001408484.1:c.1838G>T NP_001395413.1:p.Cys613Phe missense NM_001408485.1:c.1838G>T NP_001395414.1:p.Cys613Phe missense NM_001408489.1:c.1838G>T NP_001395418.1:p.Cys613Phe missense NM_001408490.1:c.1838G>T NP_001395419.1:p.Cys613Phe missense NM_001408491.1:c.1838G>T NP_001395420.1:p.Cys613Phe missense NM_001408492.1:c.1835G>T NP_001395421.1:p.Cys612Phe missense NM_001408493.1:c.1835G>T NP_001395422.1:p.Cys612Phe missense NM_001408494.1:c.1811G>T NP_001395423.1:p.Cys604Phe missense NM_001408495.1:c.1805G>T NP_001395424.1:p.Cys602Phe missense NM_001408496.1:c.1787G>T NP_001395425.1:p.Cys596Phe missense NM_001408497.1:c.1787G>T NP_001395426.1:p.Cys596Phe missense NM_001408498.1:c.1787G>T NP_001395427.1:p.Cys596Phe missense NM_001408499.1:c.1787G>T NP_001395428.1:p.Cys596Phe missense NM_001408500.1:c.1787G>T NP_001395429.1:p.Cys596Phe missense NM_001408501.1:c.1787G>T NP_001395430.1:p.Cys596Phe missense NM_001408502.1:c.1784G>T NP_001395431.1:p.Cys595Phe missense NM_001408503.1:c.1784G>T NP_001395432.1:p.Cys595Phe missense NM_001408504.1:c.1784G>T NP_001395433.1:p.Cys595Phe missense NM_001408505.1:c.1781G>T NP_001395434.1:p.Cys594Phe missense NM_001408506.1:c.1724G>T NP_001395435.1:p.Cys575Phe missense NM_001408507.1:c.1721G>T NP_001395436.1:p.Cys574Phe missense NM_001408508.1:c.1712G>T NP_001395437.1:p.Cys571Phe missense NM_001408509.1:c.1709G>T NP_001395438.1:p.Cys570Phe missense NM_001408510.1:c.1670G>T NP_001395439.1:p.Cys557Phe missense NM_001408511.1:c.1667G>T NP_001395440.1:p.Cys556Phe missense NM_001408512.1:c.1547G>T NP_001395441.1:p.Cys516Phe missense NM_001408513.1:c.1520G>T NP_001395442.1:p.Cys507Phe missense NM_001408514.1:c.1124G>T NP_001395443.1:p.Cys375Phe missense NM_007297.4:c.5219G>T NP_009228.2:p.Cys1740Phe missense NM_007298.4:c.2048G>T NP_009229.2:p.Cys683Phe missense NM_007299.4:c.2021-1464G>T intron variant NM_007300.4:c.5423G>T NP_009231.2:p.Cys1808Phe missense NM_007304.2:c.2048G>T NP_009235.2:p.Cys683Phe missense NR_027676.2:n.5537G>T non-coding transcript variant NC_000017.11:g.43049167C>A NC_000017.10:g.41201184C>A NG_005905.2:g.168817G>T LRG_292:g.168817G>T LRG_292t1:c.5360G>T LRG_292p1:p.Cys1787Phe - Protein change
- C683F, C1740F, C1787F, C1808F, C1618F, C1633F, C1660F, C1676F, C1699F, C1738F, C1759F, C1783F, C1784F, C375F, C556F, C570F, C639F, C641F, C643F, C657F, C680F, C1490F, C1675F, C1717F, C1719F, C1744F, C1760F, C1807F, C507F, C516F, C557F, C595F, C596F, C604F, C612F, C613F, C617F, C636F, C637F, C644F, C919F, C1658F, C1697F, C1698F, C1716F, C1720F, C1745F, C1761F, C1767F, C1768F, C1786F, C574F, C602F, C614F, C616F, C635F, C645F, C659F, C682F, C684F, C1491F, C1659F, C1674F, C1715F, C1718F, C1739F, C1743F, C1746F, C1782F, C1785F, C1809F, C571F, C575F, C594F, C642F, C658F, C681F, C705F, C706F, C918F
- Other names
- -
- Canonical SPDI
- NC_000017.11:43049166:C:A
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
functionally_normal; Sequence Ontology [ SO:0002219]The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5360G>T, a MISSENSE variant, produced a function score of -0.3, 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. [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 |
13044 | 14850 | |
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. |
|---|---|---|---|---|
| not provided (1) |
no classification provided
|
- | RCV001073119.3 |
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. |
|
|---|---|---|---|---|---|
|
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: SCV001238622.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
FUNCTIONAL:-0.299372080620328
|
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_normal
|
Method citation(s):
|
|
Brotman Baty Institute, University of Washington
Accession: SCV001238622.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5360G>T, a MISSENSE variant, produced a function score of -0.3, corresponding to a functional classification of FUNCTIONAL. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5360G>T, a MISSENSE variant, produced a function score of -0.3, 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. (less)
|
Citations for germline classification of this variant
Help| Title | 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 rs1597801649 ...
HelpRecord last updated Oct 08, 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.