ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5470A>G (p.Ile1824Val)
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.
Uncertain significance(5); Likely benign(1)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.5470A>G (p.Ile1824Val)
Variation ID: 141804 Accession: VCV000141804.21
- Type and length
-
single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43045800 (GRCh38) [ NCBI UCSC ] 17: 41197817 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 29, 2017 May 1, 2024 May 11, 2023 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.5470A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ile1824Val missense NM_001407571.1:c.5257A>G NP_001394500.1:p.Ile1753Val missense NM_001407581.1:c.5536A>G NP_001394510.1:p.Ile1846Val missense NM_001407582.1:c.5536A>G NP_001394511.1:p.Ile1846Val missense NM_001407583.1:c.5533A>G NP_001394512.1:p.Ile1845Val missense NM_001407585.1:c.5533A>G NP_001394514.1:p.Ile1845Val missense NM_001407587.1:c.5533A>G NP_001394516.1:p.Ile1845Val missense NM_001407590.1:c.5530A>G NP_001394519.1:p.Ile1844Val missense NM_001407591.1:c.5530A>G NP_001394520.1:p.Ile1844Val missense NM_001407593.1:c.5470A>G NP_001394522.1:p.Ile1824Val missense NM_001407594.1:c.5470A>G NP_001394523.1:p.Ile1824Val missense NM_001407596.1:c.5470A>G NP_001394525.1:p.Ile1824Val missense NM_001407597.1:c.5470A>G NP_001394526.1:p.Ile1824Val missense NM_001407598.1:c.5470A>G NP_001394527.1:p.Ile1824Val missense NM_001407602.1:c.5470A>G NP_001394531.1:p.Ile1824Val missense NM_001407603.1:c.5470A>G NP_001394532.1:p.Ile1824Val missense NM_001407605.1:c.5470A>G NP_001394534.1:p.Ile1824Val missense NM_001407610.1:c.5467A>G NP_001394539.1:p.Ile1823Val missense NM_001407611.1:c.5467A>G NP_001394540.1:p.Ile1823Val missense NM_001407612.1:c.5467A>G NP_001394541.1:p.Ile1823Val missense NM_001407613.1:c.5467A>G NP_001394542.1:p.Ile1823Val missense NM_001407614.1:c.5467A>G NP_001394543.1:p.Ile1823Val missense NM_001407615.1:c.5467A>G NP_001394544.1:p.Ile1823Val missense NM_001407616.1:c.5467A>G NP_001394545.1:p.Ile1823Val missense NM_001407617.1:c.5467A>G NP_001394546.1:p.Ile1823Val missense NM_001407618.1:c.5467A>G NP_001394547.1:p.Ile1823Val missense NM_001407619.1:c.5467A>G NP_001394548.1:p.Ile1823Val missense NM_001407620.1:c.5467A>G NP_001394549.1:p.Ile1823Val missense NM_001407621.1:c.5467A>G NP_001394550.1:p.Ile1823Val missense NM_001407622.1:c.5467A>G NP_001394551.1:p.Ile1823Val missense NM_001407623.1:c.5467A>G NP_001394552.1:p.Ile1823Val missense NM_001407624.1:c.5467A>G NP_001394553.1:p.Ile1823Val missense NM_001407625.1:c.5467A>G NP_001394554.1:p.Ile1823Val missense NM_001407626.1:c.5467A>G NP_001394555.1:p.Ile1823Val missense NM_001407627.1:c.5464A>G NP_001394556.1:p.Ile1822Val missense NM_001407628.1:c.5464A>G NP_001394557.1:p.Ile1822Val missense NM_001407629.1:c.5464A>G NP_001394558.1:p.Ile1822Val missense NM_001407630.1:c.5464A>G NP_001394559.1:p.Ile1822Val missense NM_001407631.1:c.5464A>G NP_001394560.1:p.Ile1822Val missense NM_001407632.1:c.5464A>G NP_001394561.1:p.Ile1822Val missense NM_001407633.1:c.5464A>G NP_001394562.1:p.Ile1822Val missense NM_001407634.1:c.5464A>G NP_001394563.1:p.Ile1822Val missense NM_001407635.1:c.5464A>G NP_001394564.1:p.Ile1822Val missense NM_001407636.1:c.5464A>G NP_001394565.1:p.Ile1822Val missense NM_001407637.1:c.5464A>G NP_001394566.1:p.Ile1822Val missense NM_001407638.1:c.5464A>G NP_001394567.1:p.Ile1822Val missense NM_001407639.1:c.5464A>G NP_001394568.1:p.Ile1822Val missense NM_001407640.1:c.5464A>G NP_001394569.1:p.Ile1822Val missense NM_001407641.1:c.5464A>G NP_001394570.1:p.Ile1822Val missense NM_001407642.1:c.5464A>G NP_001394571.1:p.Ile1822Val missense NM_001407644.1:c.5461A>G NP_001394573.1:p.Ile1821Val missense NM_001407645.1:c.5461A>G NP_001394574.1:p.Ile1821Val missense NM_001407646.1:c.5458A>G NP_001394575.1:p.Ile1820Val missense NM_001407647.1:c.5455A>G NP_001394576.1:p.Ile1819Val missense NM_001407648.1:c.5413A>G NP_001394577.1:p.Ile1805Val missense NM_001407649.1:c.5410A>G NP_001394578.1:p.Ile1804Val missense NM_001407652.1:c.5392A>G NP_001394581.1:p.Ile1798Val missense NM_001407653.1:c.5392A>G NP_001394582.1:p.Ile1798Val missense NM_001407654.1:c.5392A>G NP_001394583.1:p.Ile1798Val missense NM_001407655.1:c.5392A>G NP_001394584.1:p.Ile1798Val missense NM_001407656.1:c.5389A>G NP_001394585.1:p.Ile1797Val missense NM_001407657.1:c.5389A>G NP_001394586.1:p.Ile1797Val missense NM_001407658.1:c.5389A>G NP_001394587.1:p.Ile1797Val missense NM_001407659.1:c.5386A>G NP_001394588.1:p.Ile1796Val missense NM_001407660.1:c.5386A>G NP_001394589.1:p.Ile1796Val missense NM_001407661.1:c.5386A>G NP_001394590.1:p.Ile1796Val missense NM_001407662.1:c.5386A>G NP_001394591.1:p.Ile1796Val missense NM_001407663.1:c.5386A>G NP_001394592.1:p.Ile1796Val missense NM_001407664.1:c.5347A>G NP_001394593.1:p.Ile1783Val missense NM_001407665.1:c.5347A>G NP_001394594.1:p.Ile1783Val missense NM_001407666.1:c.5347A>G NP_001394595.1:p.Ile1783Val missense NM_001407667.1:c.5347A>G NP_001394596.1:p.Ile1783Val missense NM_001407668.1:c.5347A>G NP_001394597.1:p.Ile1783Val missense NM_001407669.1:c.5347A>G NP_001394598.1:p.Ile1783Val missense NM_001407670.1:c.5344A>G NP_001394599.1:p.Ile1782Val missense NM_001407671.1:c.5344A>G NP_001394600.1:p.Ile1782Val missense NM_001407672.1:c.5344A>G NP_001394601.1:p.Ile1782Val missense NM_001407673.1:c.5344A>G NP_001394602.1:p.Ile1782Val missense NM_001407674.1:c.5344A>G NP_001394603.1:p.Ile1782Val missense NM_001407675.1:c.5344A>G NP_001394604.1:p.Ile1782Val missense NM_001407676.1:c.5344A>G NP_001394605.1:p.Ile1782Val missense NM_001407677.1:c.5344A>G NP_001394606.1:p.Ile1782Val missense NM_001407678.1:c.5344A>G NP_001394607.1:p.Ile1782Val missense NM_001407679.1:c.5344A>G NP_001394608.1:p.Ile1782Val missense NM_001407680.1:c.5344A>G NP_001394609.1:p.Ile1782Val missense NM_001407681.1:c.5341A>G NP_001394610.1:p.Ile1781Val missense NM_001407682.1:c.5341A>G NP_001394611.1:p.Ile1781Val missense NM_001407683.1:c.5341A>G NP_001394612.1:p.Ile1781Val missense NM_001407684.1:c.5341A>G NP_001394613.1:p.Ile1781Val missense NM_001407685.1:c.5341A>G NP_001394614.1:p.Ile1781Val missense NM_001407686.1:c.5341A>G NP_001394615.1:p.Ile1781Val missense NM_001407687.1:c.5341A>G NP_001394616.1:p.Ile1781Val missense NM_001407688.1:c.5341A>G NP_001394617.1:p.Ile1781Val missense NM_001407689.1:c.5341A>G NP_001394618.1:p.Ile1781Val missense NM_001407690.1:c.5338A>G NP_001394619.1:p.Ile1780Val missense NM_001407691.1:c.5338A>G NP_001394620.1:p.Ile1780Val missense NM_001407692.1:c.5329A>G NP_001394621.1:p.Ile1777Val missense NM_001407694.1:c.5329A>G NP_001394623.1:p.Ile1777Val missense NM_001407695.1:c.5329A>G NP_001394624.1:p.Ile1777Val missense NM_001407696.1:c.5329A>G NP_001394625.1:p.Ile1777Val missense NM_001407697.1:c.5329A>G NP_001394626.1:p.Ile1777Val missense NM_001407698.1:c.5329A>G NP_001394627.1:p.Ile1777Val missense NM_001407724.1:c.5329A>G NP_001394653.1:p.Ile1777Val missense NM_001407725.1:c.5329A>G NP_001394654.1:p.Ile1777Val missense NM_001407726.1:c.5329A>G NP_001394655.1:p.Ile1777Val missense NM_001407727.1:c.5329A>G NP_001394656.1:p.Ile1777Val missense NM_001407728.1:c.5329A>G NP_001394657.1:p.Ile1777Val missense NM_001407729.1:c.5329A>G NP_001394658.1:p.Ile1777Val missense NM_001407730.1:c.5329A>G NP_001394659.1:p.Ile1777Val missense NM_001407731.1:c.5329A>G NP_001394660.1:p.Ile1777Val missense NM_001407732.1:c.5326A>G NP_001394661.1:p.Ile1776Val missense NM_001407733.1:c.5326A>G NP_001394662.1:p.Ile1776Val missense NM_001407734.1:c.5326A>G NP_001394663.1:p.Ile1776Val missense NM_001407735.1:c.5326A>G NP_001394664.1:p.Ile1776Val missense NM_001407736.1:c.5326A>G NP_001394665.1:p.Ile1776Val missense NM_001407737.1:c.5326A>G NP_001394666.1:p.Ile1776Val missense NM_001407738.1:c.5326A>G NP_001394667.1:p.Ile1776Val missense NM_001407739.1:c.5326A>G NP_001394668.1:p.Ile1776Val missense NM_001407740.1:c.5326A>G NP_001394669.1:p.Ile1776Val missense NM_001407741.1:c.5326A>G NP_001394670.1:p.Ile1776Val missense NM_001407742.1:c.5326A>G NP_001394671.1:p.Ile1776Val missense NM_001407743.1:c.5326A>G NP_001394672.1:p.Ile1776Val missense NM_001407744.1:c.5326A>G NP_001394673.1:p.Ile1776Val missense NM_001407745.1:c.5326A>G NP_001394674.1:p.Ile1776Val missense NM_001407746.1:c.5326A>G NP_001394675.1:p.Ile1776Val missense NM_001407747.1:c.5326A>G NP_001394676.1:p.Ile1776Val missense NM_001407748.1:c.5326A>G NP_001394677.1:p.Ile1776Val missense NM_001407749.1:c.5326A>G NP_001394678.1:p.Ile1776Val missense NM_001407750.1:c.5326A>G NP_001394679.1:p.Ile1776Val missense NM_001407751.1:c.5326A>G NP_001394680.1:p.Ile1776Val missense NM_001407752.1:c.5326A>G NP_001394681.1:p.Ile1776Val missense NM_001407838.1:c.5323A>G NP_001394767.1:p.Ile1775Val missense NM_001407839.1:c.5323A>G NP_001394768.1:p.Ile1775Val missense NM_001407841.1:c.5323A>G NP_001394770.1:p.Ile1775Val missense NM_001407842.1:c.5323A>G NP_001394771.1:p.Ile1775Val missense NM_001407843.1:c.5323A>G NP_001394772.1:p.Ile1775Val missense NM_001407844.1:c.5323A>G NP_001394773.1:p.Ile1775Val missense NM_001407845.1:c.5323A>G NP_001394774.1:p.Ile1775Val missense NM_001407846.1:c.5323A>G NP_001394775.1:p.Ile1775Val missense NM_001407847.1:c.5323A>G NP_001394776.1:p.Ile1775Val missense NM_001407848.1:c.5323A>G NP_001394777.1:p.Ile1775Val missense NM_001407849.1:c.5323A>G NP_001394778.1:p.Ile1775Val missense NM_001407850.1:c.5323A>G NP_001394779.1:p.Ile1775Val missense NM_001407851.1:c.5323A>G NP_001394780.1:p.Ile1775Val missense NM_001407852.1:c.5323A>G NP_001394781.1:p.Ile1775Val missense NM_001407853.1:c.5323A>G NP_001394782.1:p.Ile1775Val missense NM_001407854.1:c.5396A>G NP_001394783.1:p.Asn1799Ser missense NM_001407858.1:c.5393A>G NP_001394787.1:p.Asn1798Ser missense NM_001407859.1:c.5393A>G NP_001394788.1:p.Asn1798Ser missense NM_001407860.1:c.5393A>G NP_001394789.1:p.Asn1798Ser missense NM_001407861.1:c.5390A>G NP_001394790.1:p.Asn1797Ser missense NM_001407862.1:c.5269A>G NP_001394791.1:p.Ile1757Val missense NM_001407863.1:c.5266A>G NP_001394792.1:p.Ile1756Val missense NM_001407874.1:c.5263A>G NP_001394803.1:p.Ile1755Val missense NM_001407875.1:c.5263A>G NP_001394804.1:p.Ile1755Val missense NM_001407879.1:c.5260A>G NP_001394808.1:p.Ile1754Val missense NM_001407881.1:c.5260A>G NP_001394810.1:p.Ile1754Val missense NM_001407882.1:c.5260A>G NP_001394811.1:p.Ile1754Val missense NM_001407884.1:c.5260A>G NP_001394813.1:p.Ile1754Val missense NM_001407885.1:c.5260A>G NP_001394814.1:p.Ile1754Val missense NM_001407886.1:c.5260A>G NP_001394815.1:p.Ile1754Val missense NM_001407887.1:c.5260A>G NP_001394816.1:p.Ile1754Val missense NM_001407889.1:c.5260A>G NP_001394818.1:p.Ile1754Val missense NM_001407894.1:c.5257A>G NP_001394823.1:p.Ile1753Val missense NM_001407895.1:c.5257A>G NP_001394824.1:p.Ile1753Val missense NM_001407896.1:c.5257A>G NP_001394825.1:p.Ile1753Val missense NM_001407897.1:c.5257A>G NP_001394826.1:p.Ile1753Val missense NM_001407898.1:c.5257A>G NP_001394827.1:p.Ile1753Val missense NM_001407899.1:c.5257A>G NP_001394828.1:p.Ile1753Val missense NM_001407900.1:c.5257A>G NP_001394829.1:p.Ile1753Val missense NM_001407902.1:c.5257A>G NP_001394831.1:p.Ile1753Val missense NM_001407904.1:c.5257A>G NP_001394833.1:p.Ile1753Val missense NM_001407906.1:c.5257A>G NP_001394835.1:p.Ile1753Val missense NM_001407907.1:c.5257A>G NP_001394836.1:p.Ile1753Val missense NM_001407908.1:c.5257A>G NP_001394837.1:p.Ile1753Val missense NM_001407909.1:c.5257A>G NP_001394838.1:p.Ile1753Val missense NM_001407910.1:c.5257A>G NP_001394839.1:p.Ile1753Val missense NM_001407915.1:c.5254A>G NP_001394844.1:p.Ile1752Val missense NM_001407916.1:c.5254A>G NP_001394845.1:p.Ile1752Val missense NM_001407917.1:c.5254A>G NP_001394846.1:p.Ile1752Val missense NM_001407918.1:c.5254A>G NP_001394847.1:p.Ile1752Val missense NM_001407919.1:c.5218A>G NP_001394848.1:p.Ile1740Val missense NM_001407920.1:c.5206A>G NP_001394849.1:p.Ile1736Val missense NM_001407921.1:c.5206A>G NP_001394850.1:p.Ile1736Val missense NM_001407922.1:c.5206A>G NP_001394851.1:p.Ile1736Val missense NM_001407923.1:c.5206A>G NP_001394852.1:p.Ile1736Val missense NM_001407924.1:c.5206A>G NP_001394853.1:p.Ile1736Val missense NM_001407925.1:c.5206A>G NP_001394854.1:p.Ile1736Val missense NM_001407926.1:c.5206A>G NP_001394855.1:p.Ile1736Val missense NM_001407927.1:c.5203A>G NP_001394856.1:p.Ile1735Val missense NM_001407928.1:c.5203A>G NP_001394857.1:p.Ile1735Val missense NM_001407929.1:c.5203A>G NP_001394858.1:p.Ile1735Val missense NM_001407930.1:c.5203A>G NP_001394859.1:p.Ile1735Val missense NM_001407931.1:c.5203A>G NP_001394860.1:p.Ile1735Val missense NM_001407932.1:c.5203A>G NP_001394861.1:p.Ile1735Val missense NM_001407933.1:c.5203A>G NP_001394862.1:p.Ile1735Val missense NM_001407934.1:c.5200A>G NP_001394863.1:p.Ile1734Val missense NM_001407935.1:c.5200A>G NP_001394864.1:p.Ile1734Val missense NM_001407936.1:c.5200A>G NP_001394865.1:p.Ile1734Val missense NM_001407937.1:c.5273A>G NP_001394866.1:p.Asn1758Ser missense NM_001407938.1:c.5273A>G NP_001394867.1:p.Asn1758Ser missense NM_001407939.1:c.5270A>G NP_001394868.1:p.Asn1757Ser missense NM_001407940.1:c.5270A>G NP_001394869.1:p.Asn1757Ser missense NM_001407941.1:c.5267A>G NP_001394870.1:p.Asn1756Ser missense NM_001407942.1:c.5255A>G NP_001394871.1:p.Asn1752Ser missense NM_001407943.1:c.5252A>G NP_001394872.1:p.Asn1751Ser missense NM_001407944.1:c.5252A>G NP_001394873.1:p.Asn1751Ser missense NM_001407945.1:c.5252A>G NP_001394874.1:p.Asn1751Ser missense NM_001407946.1:c.5137A>G NP_001394875.1:p.Ile1713Val missense NM_001407947.1:c.5137A>G NP_001394876.1:p.Ile1713Val missense NM_001407948.1:c.5137A>G NP_001394877.1:p.Ile1713Val missense NM_001407949.1:c.5137A>G NP_001394878.1:p.Ile1713Val missense NM_001407950.1:c.5134A>G NP_001394879.1:p.Ile1712Val missense NM_001407951.1:c.5134A>G NP_001394880.1:p.Ile1712Val missense NM_001407952.1:c.5134A>G NP_001394881.1:p.Ile1712Val missense NM_001407953.1:c.5134A>G NP_001394882.1:p.Ile1712Val missense NM_001407954.1:c.5134A>G NP_001394883.1:p.Ile1712Val missense NM_001407955.1:c.5134A>G NP_001394884.1:p.Ile1712Val missense NM_001407956.1:c.5131A>G NP_001394885.1:p.Ile1711Val missense NM_001407957.1:c.5131A>G NP_001394886.1:p.Ile1711Val missense NM_001407958.1:c.5131A>G NP_001394887.1:p.Ile1711Val missense NM_001407959.1:c.5089A>G NP_001394888.1:p.Ile1697Val missense NM_001407960.1:c.5086A>G NP_001394889.1:p.Ile1696Val missense NM_001407962.1:c.5086A>G NP_001394891.1:p.Ile1696Val missense NM_001407963.1:c.5083A>G NP_001394892.1:p.Ile1695Val missense NM_001407964.1:c.5008A>G NP_001394893.1:p.Ile1670Val missense NM_001407965.1:c.4963A>G NP_001394894.1:p.Ile1655Val missense NM_001407966.1:c.4582A>G NP_001394895.1:p.Ile1528Val missense NM_001407967.1:c.4579A>G NP_001394896.1:p.Ile1527Val missense NM_001407968.1:c.2866A>G NP_001394897.1:p.Ile956Val missense NM_001407969.1:c.2863A>G NP_001394898.1:p.Ile955Val missense NM_001407970.1:c.2227A>G NP_001394899.1:p.Ile743Val missense NM_001407971.1:c.2227A>G NP_001394900.1:p.Ile743Val missense NM_001407972.1:c.2224A>G NP_001394901.1:p.Ile742Val missense NM_001407973.1:c.2161A>G NP_001394902.1:p.Ile721Val missense NM_001407974.1:c.2161A>G NP_001394903.1:p.Ile721Val missense NM_001407975.1:c.2161A>G NP_001394904.1:p.Ile721Val missense NM_001407976.1:c.2161A>G NP_001394905.1:p.Ile721Val missense NM_001407977.1:c.2161A>G NP_001394906.1:p.Ile721Val missense NM_001407978.1:c.2161A>G NP_001394907.1:p.Ile721Val missense NM_001407979.1:c.2158A>G NP_001394908.1:p.Ile720Val missense NM_001407980.1:c.2158A>G NP_001394909.1:p.Ile720Val missense NM_001407981.1:c.2158A>G NP_001394910.1:p.Ile720Val missense NM_001407982.1:c.2158A>G NP_001394911.1:p.Ile720Val missense NM_001407983.1:c.2158A>G NP_001394912.1:p.Ile720Val missense NM_001407984.1:c.2158A>G NP_001394913.1:p.Ile720Val missense NM_001407985.1:c.2158A>G NP_001394914.1:p.Ile720Val missense NM_001407986.1:c.2158A>G NP_001394915.1:p.Ile720Val missense NM_001407990.1:c.2158A>G NP_001394919.1:p.Ile720Val missense NM_001407991.1:c.2158A>G NP_001394920.1:p.Ile720Val missense NM_001407992.1:c.2158A>G NP_001394921.1:p.Ile720Val missense NM_001407993.1:c.2158A>G NP_001394922.1:p.Ile720Val missense NM_001408392.1:c.2155A>G NP_001395321.1:p.Ile719Val missense NM_001408396.1:c.2155A>G NP_001395325.1:p.Ile719Val missense NM_001408397.1:c.2155A>G NP_001395326.1:p.Ile719Val missense NM_001408398.1:c.2155A>G NP_001395327.1:p.Ile719Val missense NM_001408399.1:c.2155A>G NP_001395328.1:p.Ile719Val missense NM_001408400.1:c.2155A>G NP_001395329.1:p.Ile719Val missense NM_001408401.1:c.2155A>G NP_001395330.1:p.Ile719Val missense NM_001408402.1:c.2155A>G NP_001395331.1:p.Ile719Val missense NM_001408403.1:c.2155A>G NP_001395332.1:p.Ile719Val missense NM_001408404.1:c.2155A>G NP_001395333.1:p.Ile719Val missense NM_001408406.1:c.2152A>G NP_001395335.1:p.Ile718Val missense NM_001408407.1:c.2152A>G NP_001395336.1:p.Ile718Val missense NM_001408408.1:c.2152A>G NP_001395337.1:p.Ile718Val missense NM_001408409.1:c.2149A>G NP_001395338.1:p.Ile717Val missense NM_001408410.1:c.2086A>G NP_001395339.1:p.Ile696Val missense NM_001408411.1:c.2083A>G NP_001395340.1:p.Ile695Val missense NM_001408412.1:c.2080A>G NP_001395341.1:p.Ile694Val missense NM_001408413.1:c.2080A>G NP_001395342.1:p.Ile694Val missense NM_001408414.1:c.2080A>G NP_001395343.1:p.Ile694Val missense NM_001408415.1:c.2080A>G NP_001395344.1:p.Ile694Val missense NM_001408416.1:c.2080A>G NP_001395345.1:p.Ile694Val missense NM_001408418.1:c.2044A>G NP_001395347.1:p.Ile682Val missense NM_001408419.1:c.2044A>G NP_001395348.1:p.Ile682Val missense NM_001408420.1:c.2044A>G NP_001395349.1:p.Ile682Val missense NM_001408421.1:c.2041A>G NP_001395350.1:p.Ile681Val missense NM_001408422.1:c.2041A>G NP_001395351.1:p.Ile681Val missense NM_001408423.1:c.2041A>G NP_001395352.1:p.Ile681Val missense NM_001408424.1:c.2041A>G NP_001395353.1:p.Ile681Val missense NM_001408425.1:c.2038A>G NP_001395354.1:p.Ile680Val missense NM_001408426.1:c.2038A>G NP_001395355.1:p.Ile680Val missense NM_001408427.1:c.2038A>G NP_001395356.1:p.Ile680Val missense NM_001408428.1:c.2038A>G NP_001395357.1:p.Ile680Val missense NM_001408429.1:c.2038A>G NP_001395358.1:p.Ile680Val missense NM_001408430.1:c.2038A>G NP_001395359.1:p.Ile680Val missense NM_001408431.1:c.2038A>G NP_001395360.1:p.Ile680Val missense NM_001408432.1:c.2035A>G NP_001395361.1:p.Ile679Val missense NM_001408433.1:c.2035A>G NP_001395362.1:p.Ile679Val missense NM_001408434.1:c.2035A>G NP_001395363.1:p.Ile679Val missense NM_001408435.1:c.2035A>G NP_001395364.1:p.Ile679Val missense NM_001408436.1:c.2035A>G NP_001395365.1:p.Ile679Val missense NM_001408437.1:c.2035A>G NP_001395366.1:p.Ile679Val missense NM_001408438.1:c.2035A>G NP_001395367.1:p.Ile679Val missense NM_001408439.1:c.2035A>G NP_001395368.1:p.Ile679Val missense NM_001408440.1:c.2035A>G NP_001395369.1:p.Ile679Val missense NM_001408441.1:c.2035A>G NP_001395370.1:p.Ile679Val missense NM_001408442.1:c.2035A>G NP_001395371.1:p.Ile679Val missense NM_001408443.1:c.2035A>G NP_001395372.1:p.Ile679Val missense NM_001408444.1:c.2035A>G NP_001395373.1:p.Ile679Val missense NM_001408445.1:c.2032A>G NP_001395374.1:p.Ile678Val missense NM_001408446.1:c.2032A>G NP_001395375.1:p.Ile678Val missense NM_001408447.1:c.2032A>G NP_001395376.1:p.Ile678Val missense NM_001408448.1:c.2032A>G NP_001395377.1:p.Ile678Val missense NM_001408450.1:c.2032A>G NP_001395379.1:p.Ile678Val missense NM_001408451.1:c.2026A>G NP_001395380.1:p.Ile676Val missense NM_001408452.1:c.2020A>G NP_001395381.1:p.Ile674Val missense NM_001408453.1:c.2020A>G NP_001395382.1:p.Ile674Val missense NM_001408454.1:c.2020A>G NP_001395383.1:p.Ile674Val missense NM_001408455.1:c.2020A>G NP_001395384.1:p.Ile674Val missense NM_001408456.1:c.2020A>G NP_001395385.1:p.Ile674Val missense NM_001408457.1:c.2020A>G NP_001395386.1:p.Ile674Val missense NM_001408458.1:c.2017A>G NP_001395387.1:p.Ile673Val missense NM_001408459.1:c.2017A>G NP_001395388.1:p.Ile673Val missense NM_001408460.1:c.2017A>G NP_001395389.1:p.Ile673Val missense NM_001408461.1:c.2017A>G NP_001395390.1:p.Ile673Val missense NM_001408462.1:c.2017A>G NP_001395391.1:p.Ile673Val missense NM_001408463.1:c.2017A>G NP_001395392.1:p.Ile673Val missense NM_001408464.1:c.2017A>G NP_001395393.1:p.Ile673Val missense NM_001408465.1:c.2017A>G NP_001395394.1:p.Ile673Val missense NM_001408466.1:c.2017A>G NP_001395395.1:p.Ile673Val missense NM_001408467.1:c.2017A>G NP_001395396.1:p.Ile673Val missense NM_001408468.1:c.2014A>G NP_001395397.1:p.Ile672Val missense NM_001408469.1:c.2014A>G NP_001395398.1:p.Ile672Val missense NM_001408470.1:c.2014A>G NP_001395399.1:p.Ile672Val missense NM_001408472.1:c.2084A>G NP_001395401.1:p.Asn695Ser missense NM_001408473.1:c.2081A>G NP_001395402.1:p.Asn694Ser missense NM_001408474.1:c.1960A>G NP_001395403.1:p.Ile654Val missense NM_001408475.1:c.1957A>G NP_001395404.1:p.Ile653Val missense NM_001408476.1:c.1957A>G NP_001395405.1:p.Ile653Val missense NM_001408478.1:c.1951A>G NP_001395407.1:p.Ile651Val missense NM_001408479.1:c.1951A>G NP_001395408.1:p.Ile651Val missense NM_001408480.1:c.1951A>G NP_001395409.1:p.Ile651Val missense NM_001408481.1:c.1948A>G NP_001395410.1:p.Ile650Val missense NM_001408482.1:c.1948A>G NP_001395411.1:p.Ile650Val missense NM_001408483.1:c.1948A>G NP_001395412.1:p.Ile650Val missense NM_001408484.1:c.1948A>G NP_001395413.1:p.Ile650Val missense NM_001408485.1:c.1948A>G NP_001395414.1:p.Ile650Val missense NM_001408489.1:c.1948A>G NP_001395418.1:p.Ile650Val missense NM_001408490.1:c.1948A>G NP_001395419.1:p.Ile650Val missense NM_001408491.1:c.1948A>G NP_001395420.1:p.Ile650Val missense NM_001408492.1:c.1945A>G NP_001395421.1:p.Ile649Val missense NM_001408493.1:c.1945A>G NP_001395422.1:p.Ile649Val missense NM_001408494.1:c.1921A>G NP_001395423.1:p.Ile641Val missense NM_001408495.1:c.1915A>G NP_001395424.1:p.Ile639Val missense NM_001408496.1:c.1897A>G NP_001395425.1:p.Ile633Val missense NM_001408497.1:c.1897A>G NP_001395426.1:p.Ile633Val missense NM_001408498.1:c.1897A>G NP_001395427.1:p.Ile633Val missense NM_001408499.1:c.1897A>G NP_001395428.1:p.Ile633Val missense NM_001408500.1:c.1897A>G NP_001395429.1:p.Ile633Val missense NM_001408501.1:c.1897A>G NP_001395430.1:p.Ile633Val missense NM_001408502.1:c.1894A>G NP_001395431.1:p.Ile632Val missense NM_001408503.1:c.1894A>G NP_001395432.1:p.Ile632Val missense NM_001408504.1:c.1894A>G NP_001395433.1:p.Ile632Val missense NM_001408505.1:c.1891A>G NP_001395434.1:p.Ile631Val missense NM_001408506.1:c.1834A>G NP_001395435.1:p.Ile612Val missense NM_001408507.1:c.1831A>G NP_001395436.1:p.Ile611Val missense NM_001408508.1:c.1822A>G NP_001395437.1:p.Ile608Val missense NM_001408509.1:c.1819A>G NP_001395438.1:p.Ile607Val missense NM_001408510.1:c.1780A>G NP_001395439.1:p.Ile594Val missense NM_001408511.1:c.1777A>G NP_001395440.1:p.Ile593Val missense NM_001408512.1:c.1657A>G NP_001395441.1:p.Ile553Val missense NM_001408513.1:c.1630A>G NP_001395442.1:p.Ile544Val missense NM_001408514.1:c.1234A>G NP_001395443.1:p.Ile412Val missense NM_007297.4:c.5329A>G NP_009228.2:p.Ile1777Val missense NM_007298.4:c.2158A>G NP_009229.2:p.Ile720Val missense NM_007299.4:c.2084A>G NP_009230.2:p.Asn695Ser missense NM_007300.4:c.5533A>G NP_009231.2:p.Ile1845Val missense NM_007304.2:c.2158A>G NP_009235.2:p.Ile720Val missense NR_027676.2:n.5647A>G non-coding transcript variant NC_000017.11:g.43045800T>C NC_000017.10:g.41197817T>C NG_005905.2:g.172184A>G LRG_292:g.172184A>G LRG_292t1:c.5470A>G LRG_292p1:p.Ile1824Val - Protein change
- I1824V, I1777V, I720V, I1845V, N695S, I1527V, I1528V, I1655V, I1736V, I1755V, I1782V, I1805V, I1819V, I1822V, I1823V, I553V, I593V, I612V, I633V, I639V, I654V, I676V, I678V, I679V, I696V, I742V, I743V, I956V, N1752S, N1758S, I1670V, I1695V, I1711V, I1734V, I1735V, I1754V, I1756V, I1775V, I1780V, I1796V, I1798V, I1821V, I544V, I594V, I607V, I641V, I651V, I653V, I674V, I694V, I695V, N1797S, N1798S, N1799S, N694S, I1697V, I1713V, I1753V, I1757V, I1776V, I1783V, I1797V, I1804V, I1820V, I412V, I631V, I632V, I650V, I673V, I680V, I681V, I718V, N1756S, I1696V, I1712V, I1740V, I1752V, I1781V, I1844V, I1846V, I608V, I611V, I649V, I672V, I682V, I717V, I719V, I721V, I955V, N1751S, N1757S
- Other names
- -
- Canonical SPDI
- NC_000017.11:43045799:T:C
-
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.5470A>G, a MISSENSE variant, produced a function score of -0.33, 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.
-
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 |
12940 | 14730 |
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. |
---|---|---|---|---|
Conflicting interpretations of pathogenicity (2) |
criteria provided, conflicting classifications
|
Apr 13, 2023 | RCV000130459.12 | |
Uncertain significance (1) |
criteria provided, single submitter
|
May 11, 2023 | RCV000168345.9 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Jun 27, 2017 | RCV000481196.2 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Oct 31, 2018 | RCV000765356.3 | |
Uncertain significance (2) |
criteria provided, single submitter
|
Mar 6, 2023 | RCV001076289.4 |
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. |
|
---|---|---|---|---|---|
Uncertain significance
(Jun 27, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000566784.4
First in ClinVar: Apr 29, 2017 Last updated: Apr 29, 2017 |
Comment:
This variant is denoted BRCA1 c.5470A>G at the cDNA level, p.Ile1824Val (I1824V) at the protein level, and results in the change of an Isoleucine to … (more)
This variant is denoted BRCA1 c.5470A>G at the cDNA level, p.Ile1824Val (I1824V) at the protein level, and results in the change of an Isoleucine to a Valine (ATT>GTT). Using alternate nomenclature, this variant would be defined as BRCA1 5589A>G. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 Ile1824Val was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Since Isoleucine and Valine share similar properties, this is considered a conservative amino acid substitution. BRCA1 Ile1824Val occurs at a position that is not conserved and is located in the BRCT 2 domain as well as a region known to interact with multiple other proteins (UniProt, Paul 2014). While protein-based in silico analyses are inconsistent regarding the effect this variant may have on protein structure and function, multiple splicing models predict that this variant may create a new cryptic splice acceptor site and possibly lead to abnormal splicing. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. Based on currently available evidence, it is unclear whether BRCA1 Ile1824Val is a pathogenic or benign variant. We consider it to be a variant of uncertain significance. (less)
|
|
Uncertain significance
(Mar 06, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004215195.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
|
|
Uncertain significance
(Oct 31, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV000896621.1
First in ClinVar: Mar 31, 2019 Last updated: Mar 31, 2019 |
|
|
Uncertain significance
(Sep 30, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV000683323.4
First in ClinVar: Feb 19, 2018 Last updated: Jun 19, 2021 |
Comment:
This missense variant replaces isoleucine with valine at codon 1824 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on … (more)
This missense variant replaces isoleucine with valine at codon 1824 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). A functional study has reported that this variant protein is functional in a human haploid cell line-based survival assay (PMID: 30209399). To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
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Uncertain significance
(May 11, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000219034.7
First in ClinVar: Mar 29, 2015 Last updated: Feb 28, 2024 |
Comment:
An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant¬† is likely to be tolerated. … (more)
An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Experimental studies have shown that this missense change does not substantially affect BRCA1 function (PMID: 30209399). ClinVar contains an entry for this variant (Variation ID: 141804). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1824 of the BRCA1 protein (p.Ile1824Val). (less)
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Likely benign
(Apr 13, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000185324.9
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of … (more)
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
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not provided
(-)
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no classification provided
Method: in vitro
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Breast-ovarian cancer, familial 1
Affected status: not applicable
Allele origin:
not applicable
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Brotman Baty Institute, University of Washington
Accession: SCV001242009.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
FUNCTIONAL:-0.330562389135634
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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. |
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functionally_normal
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Method citation(s):
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Brotman Baty Institute, University of Washington
Accession: SCV001242009.1
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Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5470A>G, a MISSENSE variant, produced a function score of -0.33, corresponding to a functional classification of FUNCTIONAL. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5470A>G, a MISSENSE variant, produced a function score of -0.33, 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)
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Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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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 rs587782026 ...
HelpRecord last updated Jul 15, 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.