ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5564T>A (p.Ile1855Lys)
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.5564T>A (p.Ile1855Lys)
Variation ID: 868679 Accession: VCV000868679.3
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43045706 (GRCh38) [ NCBI UCSC ] 17: 41197723 (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 May 1, 2024 Feb 9, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5564T>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ile1855Lys missense NM_001407571.1:c.5351T>A NP_001394500.1:p.Ile1784Lys missense NM_001407581.1:c.5630T>A NP_001394510.1:p.Ile1877Lys missense NM_001407582.1:c.5630T>A NP_001394511.1:p.Ile1877Lys missense NM_001407583.1:c.5627T>A NP_001394512.1:p.Ile1876Lys missense NM_001407585.1:c.5627T>A NP_001394514.1:p.Ile1876Lys missense NM_001407587.1:c.5627T>A NP_001394516.1:p.Ile1876Lys missense NM_001407590.1:c.5624T>A NP_001394519.1:p.Ile1875Lys missense NM_001407591.1:c.5624T>A NP_001394520.1:p.Ile1875Lys missense NM_001407593.1:c.5564T>A NP_001394522.1:p.Ile1855Lys missense NM_001407594.1:c.5564T>A NP_001394523.1:p.Ile1855Lys missense NM_001407596.1:c.5564T>A NP_001394525.1:p.Ile1855Lys missense NM_001407597.1:c.5564T>A NP_001394526.1:p.Ile1855Lys missense NM_001407598.1:c.5564T>A NP_001394527.1:p.Ile1855Lys missense NM_001407602.1:c.5564T>A NP_001394531.1:p.Ile1855Lys missense NM_001407603.1:c.5564T>A NP_001394532.1:p.Ile1855Lys missense NM_001407605.1:c.5564T>A NP_001394534.1:p.Ile1855Lys missense NM_001407610.1:c.5561T>A NP_001394539.1:p.Ile1854Lys missense NM_001407611.1:c.5561T>A NP_001394540.1:p.Ile1854Lys missense NM_001407612.1:c.5561T>A NP_001394541.1:p.Ile1854Lys missense NM_001407613.1:c.5561T>A NP_001394542.1:p.Ile1854Lys missense NM_001407614.1:c.5561T>A NP_001394543.1:p.Ile1854Lys missense NM_001407615.1:c.5561T>A NP_001394544.1:p.Ile1854Lys missense NM_001407616.1:c.5561T>A NP_001394545.1:p.Ile1854Lys missense NM_001407617.1:c.5561T>A NP_001394546.1:p.Ile1854Lys missense NM_001407618.1:c.5561T>A NP_001394547.1:p.Ile1854Lys missense NM_001407619.1:c.5561T>A NP_001394548.1:p.Ile1854Lys missense NM_001407620.1:c.5561T>A NP_001394549.1:p.Ile1854Lys missense NM_001407621.1:c.5561T>A NP_001394550.1:p.Ile1854Lys missense NM_001407622.1:c.5561T>A NP_001394551.1:p.Ile1854Lys missense NM_001407623.1:c.5561T>A NP_001394552.1:p.Ile1854Lys missense NM_001407624.1:c.5561T>A NP_001394553.1:p.Ile1854Lys missense NM_001407625.1:c.5561T>A NP_001394554.1:p.Ile1854Lys missense NM_001407626.1:c.5561T>A NP_001394555.1:p.Ile1854Lys missense NM_001407627.1:c.5558T>A NP_001394556.1:p.Ile1853Lys missense NM_001407628.1:c.5558T>A NP_001394557.1:p.Ile1853Lys missense NM_001407629.1:c.5558T>A NP_001394558.1:p.Ile1853Lys missense NM_001407630.1:c.5558T>A NP_001394559.1:p.Ile1853Lys missense NM_001407631.1:c.5558T>A NP_001394560.1:p.Ile1853Lys missense NM_001407632.1:c.5558T>A NP_001394561.1:p.Ile1853Lys missense NM_001407633.1:c.5558T>A NP_001394562.1:p.Ile1853Lys missense NM_001407634.1:c.5558T>A NP_001394563.1:p.Ile1853Lys missense NM_001407635.1:c.5558T>A NP_001394564.1:p.Ile1853Lys missense NM_001407636.1:c.5558T>A NP_001394565.1:p.Ile1853Lys missense NM_001407637.1:c.5558T>A NP_001394566.1:p.Ile1853Lys missense NM_001407638.1:c.5558T>A NP_001394567.1:p.Ile1853Lys missense NM_001407639.1:c.5558T>A NP_001394568.1:p.Ile1853Lys missense NM_001407640.1:c.5558T>A NP_001394569.1:p.Ile1853Lys missense NM_001407641.1:c.5558T>A NP_001394570.1:p.Ile1853Lys missense NM_001407642.1:c.5558T>A NP_001394571.1:p.Ile1853Lys missense NM_001407644.1:c.5555T>A NP_001394573.1:p.Ile1852Lys missense NM_001407645.1:c.5555T>A NP_001394574.1:p.Ile1852Lys missense NM_001407646.1:c.5552T>A NP_001394575.1:p.Ile1851Lys missense NM_001407647.1:c.5549T>A NP_001394576.1:p.Ile1850Lys missense NM_001407648.1:c.5507T>A NP_001394577.1:p.Ile1836Lys missense NM_001407649.1:c.5504T>A NP_001394578.1:p.Ile1835Lys missense NM_001407652.1:c.5486T>A NP_001394581.1:p.Ile1829Lys missense NM_001407653.1:c.5486T>A NP_001394582.1:p.Ile1829Lys missense NM_001407654.1:c.5486T>A NP_001394583.1:p.Ile1829Lys missense NM_001407655.1:c.5486T>A NP_001394584.1:p.Ile1829Lys missense NM_001407656.1:c.5483T>A NP_001394585.1:p.Ile1828Lys missense NM_001407657.1:c.5483T>A NP_001394586.1:p.Ile1828Lys missense NM_001407658.1:c.5483T>A NP_001394587.1:p.Ile1828Lys missense NM_001407659.1:c.5480T>A NP_001394588.1:p.Ile1827Lys missense NM_001407660.1:c.5480T>A NP_001394589.1:p.Ile1827Lys missense NM_001407661.1:c.5480T>A NP_001394590.1:p.Ile1827Lys missense NM_001407662.1:c.5480T>A NP_001394591.1:p.Ile1827Lys missense NM_001407663.1:c.5480T>A NP_001394592.1:p.Ile1827Lys missense NM_001407664.1:c.5441T>A NP_001394593.1:p.Ile1814Lys missense NM_001407665.1:c.5441T>A NP_001394594.1:p.Ile1814Lys missense NM_001407666.1:c.5441T>A NP_001394595.1:p.Ile1814Lys missense NM_001407667.1:c.5441T>A NP_001394596.1:p.Ile1814Lys missense NM_001407668.1:c.5441T>A NP_001394597.1:p.Ile1814Lys missense NM_001407669.1:c.5441T>A NP_001394598.1:p.Ile1814Lys missense NM_001407670.1:c.5438T>A NP_001394599.1:p.Ile1813Lys missense NM_001407671.1:c.5438T>A NP_001394600.1:p.Ile1813Lys missense NM_001407672.1:c.5438T>A NP_001394601.1:p.Ile1813Lys missense NM_001407673.1:c.5438T>A NP_001394602.1:p.Ile1813Lys missense NM_001407674.1:c.5438T>A NP_001394603.1:p.Ile1813Lys missense NM_001407675.1:c.5438T>A NP_001394604.1:p.Ile1813Lys missense NM_001407676.1:c.5438T>A NP_001394605.1:p.Ile1813Lys missense NM_001407677.1:c.5438T>A NP_001394606.1:p.Ile1813Lys missense NM_001407678.1:c.5438T>A NP_001394607.1:p.Ile1813Lys missense NM_001407679.1:c.5438T>A NP_001394608.1:p.Ile1813Lys missense NM_001407680.1:c.5438T>A NP_001394609.1:p.Ile1813Lys missense NM_001407681.1:c.5435T>A NP_001394610.1:p.Ile1812Lys missense NM_001407682.1:c.5435T>A NP_001394611.1:p.Ile1812Lys missense NM_001407683.1:c.5435T>A NP_001394612.1:p.Ile1812Lys missense NM_001407684.1:c.5435T>A NP_001394613.1:p.Ile1812Lys missense NM_001407685.1:c.5435T>A NP_001394614.1:p.Ile1812Lys missense NM_001407686.1:c.5435T>A NP_001394615.1:p.Ile1812Lys missense NM_001407687.1:c.5435T>A NP_001394616.1:p.Ile1812Lys missense NM_001407688.1:c.5435T>A NP_001394617.1:p.Ile1812Lys missense NM_001407689.1:c.5435T>A NP_001394618.1:p.Ile1812Lys missense NM_001407690.1:c.5432T>A NP_001394619.1:p.Ile1811Lys missense NM_001407691.1:c.5432T>A NP_001394620.1:p.Ile1811Lys missense NM_001407692.1:c.5423T>A NP_001394621.1:p.Ile1808Lys missense NM_001407694.1:c.5423T>A NP_001394623.1:p.Ile1808Lys missense NM_001407695.1:c.5423T>A NP_001394624.1:p.Ile1808Lys missense NM_001407696.1:c.5423T>A NP_001394625.1:p.Ile1808Lys missense NM_001407697.1:c.5423T>A NP_001394626.1:p.Ile1808Lys missense NM_001407698.1:c.5423T>A NP_001394627.1:p.Ile1808Lys missense NM_001407724.1:c.5423T>A NP_001394653.1:p.Ile1808Lys missense NM_001407725.1:c.5423T>A NP_001394654.1:p.Ile1808Lys missense NM_001407726.1:c.5423T>A NP_001394655.1:p.Ile1808Lys missense NM_001407727.1:c.5423T>A NP_001394656.1:p.Ile1808Lys missense NM_001407728.1:c.5423T>A NP_001394657.1:p.Ile1808Lys missense NM_001407729.1:c.5423T>A NP_001394658.1:p.Ile1808Lys missense NM_001407730.1:c.5423T>A NP_001394659.1:p.Ile1808Lys missense NM_001407731.1:c.5423T>A NP_001394660.1:p.Ile1808Lys missense NM_001407732.1:c.5420T>A NP_001394661.1:p.Ile1807Lys missense NM_001407733.1:c.5420T>A NP_001394662.1:p.Ile1807Lys missense NM_001407734.1:c.5420T>A NP_001394663.1:p.Ile1807Lys missense NM_001407735.1:c.5420T>A NP_001394664.1:p.Ile1807Lys missense NM_001407736.1:c.5420T>A NP_001394665.1:p.Ile1807Lys missense NM_001407737.1:c.5420T>A NP_001394666.1:p.Ile1807Lys missense NM_001407738.1:c.5420T>A NP_001394667.1:p.Ile1807Lys missense NM_001407739.1:c.5420T>A NP_001394668.1:p.Ile1807Lys missense NM_001407740.1:c.5420T>A NP_001394669.1:p.Ile1807Lys missense NM_001407741.1:c.5420T>A NP_001394670.1:p.Ile1807Lys missense NM_001407742.1:c.5420T>A NP_001394671.1:p.Ile1807Lys missense NM_001407743.1:c.5420T>A NP_001394672.1:p.Ile1807Lys missense NM_001407744.1:c.5420T>A NP_001394673.1:p.Ile1807Lys missense NM_001407745.1:c.5420T>A NP_001394674.1:p.Ile1807Lys missense NM_001407746.1:c.5420T>A NP_001394675.1:p.Ile1807Lys missense NM_001407747.1:c.5420T>A NP_001394676.1:p.Ile1807Lys missense NM_001407748.1:c.5420T>A NP_001394677.1:p.Ile1807Lys missense NM_001407749.1:c.5420T>A NP_001394678.1:p.Ile1807Lys missense NM_001407750.1:c.5420T>A NP_001394679.1:p.Ile1807Lys missense NM_001407751.1:c.5420T>A NP_001394680.1:p.Ile1807Lys missense NM_001407752.1:c.5420T>A NP_001394681.1:p.Ile1807Lys missense NM_001407838.1:c.5417T>A NP_001394767.1:p.Ile1806Lys missense NM_001407839.1:c.5417T>A NP_001394768.1:p.Ile1806Lys missense NM_001407841.1:c.5417T>A NP_001394770.1:p.Ile1806Lys missense NM_001407842.1:c.5417T>A NP_001394771.1:p.Ile1806Lys missense NM_001407843.1:c.5417T>A NP_001394772.1:p.Ile1806Lys missense NM_001407844.1:c.5417T>A NP_001394773.1:p.Ile1806Lys missense NM_001407845.1:c.5417T>A NP_001394774.1:p.Ile1806Lys missense NM_001407846.1:c.5417T>A NP_001394775.1:p.Ile1806Lys missense NM_001407847.1:c.5417T>A NP_001394776.1:p.Ile1806Lys missense NM_001407848.1:c.5417T>A NP_001394777.1:p.Ile1806Lys missense NM_001407849.1:c.5417T>A NP_001394778.1:p.Ile1806Lys missense NM_001407850.1:c.5417T>A NP_001394779.1:p.Ile1806Lys missense NM_001407851.1:c.5417T>A NP_001394780.1:p.Ile1806Lys missense NM_001407852.1:c.5417T>A NP_001394781.1:p.Ile1806Lys missense NM_001407853.1:c.5417T>A NP_001394782.1:p.Ile1806Lys missense NM_001407854.1:c.*78T>A NM_001407858.1:c.*78T>A NM_001407859.1:c.*78T>A NM_001407860.1:c.*78T>A NM_001407861.1:c.*78T>A NM_001407862.1:c.5363T>A NP_001394791.1:p.Ile1788Lys missense NM_001407863.1:c.5360T>A NP_001394792.1:p.Ile1787Lys missense NM_001407874.1:c.5357T>A NP_001394803.1:p.Ile1786Lys missense NM_001407875.1:c.5357T>A NP_001394804.1:p.Ile1786Lys missense NM_001407879.1:c.5354T>A NP_001394808.1:p.Ile1785Lys missense NM_001407881.1:c.5354T>A NP_001394810.1:p.Ile1785Lys missense NM_001407882.1:c.5354T>A NP_001394811.1:p.Ile1785Lys missense NM_001407884.1:c.5354T>A NP_001394813.1:p.Ile1785Lys missense NM_001407885.1:c.5354T>A NP_001394814.1:p.Ile1785Lys missense NM_001407886.1:c.5354T>A NP_001394815.1:p.Ile1785Lys missense NM_001407887.1:c.5354T>A NP_001394816.1:p.Ile1785Lys missense NM_001407889.1:c.5354T>A NP_001394818.1:p.Ile1785Lys missense NM_001407894.1:c.5351T>A NP_001394823.1:p.Ile1784Lys missense NM_001407895.1:c.5351T>A NP_001394824.1:p.Ile1784Lys missense NM_001407896.1:c.5351T>A NP_001394825.1:p.Ile1784Lys missense NM_001407897.1:c.5351T>A NP_001394826.1:p.Ile1784Lys missense NM_001407898.1:c.5351T>A NP_001394827.1:p.Ile1784Lys missense NM_001407899.1:c.5351T>A NP_001394828.1:p.Ile1784Lys missense NM_001407900.1:c.5351T>A NP_001394829.1:p.Ile1784Lys missense NM_001407902.1:c.5351T>A NP_001394831.1:p.Ile1784Lys missense NM_001407904.1:c.5351T>A NP_001394833.1:p.Ile1784Lys missense NM_001407906.1:c.5351T>A NP_001394835.1:p.Ile1784Lys missense NM_001407907.1:c.5351T>A NP_001394836.1:p.Ile1784Lys missense NM_001407908.1:c.5351T>A NP_001394837.1:p.Ile1784Lys missense NM_001407909.1:c.5351T>A NP_001394838.1:p.Ile1784Lys missense NM_001407910.1:c.5351T>A NP_001394839.1:p.Ile1784Lys missense NM_001407915.1:c.5348T>A NP_001394844.1:p.Ile1783Lys missense NM_001407916.1:c.5348T>A NP_001394845.1:p.Ile1783Lys missense NM_001407917.1:c.5348T>A NP_001394846.1:p.Ile1783Lys missense NM_001407918.1:c.5348T>A NP_001394847.1:p.Ile1783Lys missense NM_001407919.1:c.5312T>A NP_001394848.1:p.Ile1771Lys missense NM_001407920.1:c.5300T>A NP_001394849.1:p.Ile1767Lys missense NM_001407921.1:c.5300T>A NP_001394850.1:p.Ile1767Lys missense NM_001407922.1:c.5300T>A NP_001394851.1:p.Ile1767Lys missense NM_001407923.1:c.5300T>A NP_001394852.1:p.Ile1767Lys missense NM_001407924.1:c.5300T>A NP_001394853.1:p.Ile1767Lys missense NM_001407925.1:c.5300T>A NP_001394854.1:p.Ile1767Lys missense NM_001407926.1:c.5300T>A NP_001394855.1:p.Ile1767Lys missense NM_001407927.1:c.5297T>A NP_001394856.1:p.Ile1766Lys missense NM_001407928.1:c.5297T>A NP_001394857.1:p.Ile1766Lys missense NM_001407929.1:c.5297T>A NP_001394858.1:p.Ile1766Lys missense NM_001407930.1:c.5297T>A NP_001394859.1:p.Ile1766Lys missense NM_001407931.1:c.5297T>A NP_001394860.1:p.Ile1766Lys missense NM_001407932.1:c.5297T>A NP_001394861.1:p.Ile1766Lys missense NM_001407933.1:c.5297T>A NP_001394862.1:p.Ile1766Lys missense NM_001407934.1:c.5294T>A NP_001394863.1:p.Ile1765Lys missense NM_001407935.1:c.5294T>A NP_001394864.1:p.Ile1765Lys missense NM_001407936.1:c.5294T>A NP_001394865.1:p.Ile1765Lys missense NM_001407937.1:c.*78T>A NM_001407938.1:c.*78T>A NM_001407939.1:c.*78T>A NM_001407940.1:c.*78T>A NM_001407941.1:c.*78T>A NM_001407942.1:c.*78T>A NM_001407943.1:c.*78T>A NM_001407944.1:c.*78T>A NM_001407945.1:c.*78T>A NM_001407946.1:c.5231T>A NP_001394875.1:p.Ile1744Lys missense NM_001407947.1:c.5231T>A NP_001394876.1:p.Ile1744Lys missense NM_001407948.1:c.5231T>A NP_001394877.1:p.Ile1744Lys missense NM_001407949.1:c.5231T>A NP_001394878.1:p.Ile1744Lys missense NM_001407950.1:c.5228T>A NP_001394879.1:p.Ile1743Lys missense NM_001407951.1:c.5228T>A NP_001394880.1:p.Ile1743Lys missense NM_001407952.1:c.5228T>A NP_001394881.1:p.Ile1743Lys missense NM_001407953.1:c.5228T>A NP_001394882.1:p.Ile1743Lys missense NM_001407954.1:c.5228T>A NP_001394883.1:p.Ile1743Lys missense NM_001407955.1:c.5228T>A NP_001394884.1:p.Ile1743Lys missense NM_001407956.1:c.5225T>A NP_001394885.1:p.Ile1742Lys missense NM_001407957.1:c.5225T>A NP_001394886.1:p.Ile1742Lys missense NM_001407958.1:c.5225T>A NP_001394887.1:p.Ile1742Lys missense NM_001407959.1:c.5183T>A NP_001394888.1:p.Ile1728Lys missense NM_001407960.1:c.5180T>A NP_001394889.1:p.Ile1727Lys missense NM_001407962.1:c.5180T>A NP_001394891.1:p.Ile1727Lys missense NM_001407963.1:c.5177T>A NP_001394892.1:p.Ile1726Lys missense NM_001407964.1:c.5102T>A NP_001394893.1:p.Ile1701Lys missense NM_001407965.1:c.5057T>A NP_001394894.1:p.Ile1686Lys missense NM_001407966.1:c.4676T>A NP_001394895.1:p.Ile1559Lys missense NM_001407967.1:c.4673T>A NP_001394896.1:p.Ile1558Lys missense NM_001407968.1:c.2960T>A NP_001394897.1:p.Ile987Lys missense NM_001407969.1:c.2957T>A NP_001394898.1:p.Ile986Lys missense NM_001407970.1:c.2321T>A NP_001394899.1:p.Ile774Lys missense NM_001407971.1:c.2321T>A NP_001394900.1:p.Ile774Lys missense NM_001407972.1:c.2318T>A NP_001394901.1:p.Ile773Lys missense NM_001407973.1:c.2255T>A NP_001394902.1:p.Ile752Lys missense NM_001407974.1:c.2255T>A NP_001394903.1:p.Ile752Lys missense NM_001407975.1:c.2255T>A NP_001394904.1:p.Ile752Lys missense NM_001407976.1:c.2255T>A NP_001394905.1:p.Ile752Lys missense NM_001407977.1:c.2255T>A NP_001394906.1:p.Ile752Lys missense NM_001407978.1:c.2255T>A NP_001394907.1:p.Ile752Lys missense NM_001407979.1:c.2252T>A NP_001394908.1:p.Ile751Lys missense NM_001407980.1:c.2252T>A NP_001394909.1:p.Ile751Lys missense NM_001407981.1:c.2252T>A NP_001394910.1:p.Ile751Lys missense NM_001407982.1:c.2252T>A NP_001394911.1:p.Ile751Lys missense NM_001407983.1:c.2252T>A NP_001394912.1:p.Ile751Lys missense NM_001407984.1:c.2252T>A NP_001394913.1:p.Ile751Lys missense NM_001407985.1:c.2252T>A NP_001394914.1:p.Ile751Lys missense NM_001407986.1:c.2252T>A NP_001394915.1:p.Ile751Lys missense NM_001407990.1:c.2252T>A NP_001394919.1:p.Ile751Lys missense NM_001407991.1:c.2252T>A NP_001394920.1:p.Ile751Lys missense NM_001407992.1:c.2252T>A NP_001394921.1:p.Ile751Lys missense NM_001407993.1:c.2252T>A NP_001394922.1:p.Ile751Lys missense NM_001408392.1:c.2249T>A NP_001395321.1:p.Ile750Lys missense NM_001408396.1:c.2249T>A NP_001395325.1:p.Ile750Lys missense NM_001408397.1:c.2249T>A NP_001395326.1:p.Ile750Lys missense NM_001408398.1:c.2249T>A NP_001395327.1:p.Ile750Lys missense NM_001408399.1:c.2249T>A NP_001395328.1:p.Ile750Lys missense NM_001408400.1:c.2249T>A NP_001395329.1:p.Ile750Lys missense NM_001408401.1:c.2249T>A NP_001395330.1:p.Ile750Lys missense NM_001408402.1:c.2249T>A NP_001395331.1:p.Ile750Lys missense NM_001408403.1:c.2249T>A NP_001395332.1:p.Ile750Lys missense NM_001408404.1:c.2249T>A NP_001395333.1:p.Ile750Lys missense NM_001408406.1:c.2246T>A NP_001395335.1:p.Ile749Lys missense NM_001408407.1:c.2246T>A NP_001395336.1:p.Ile749Lys missense NM_001408408.1:c.2246T>A NP_001395337.1:p.Ile749Lys missense NM_001408409.1:c.2243T>A NP_001395338.1:p.Ile748Lys missense NM_001408410.1:c.2180T>A NP_001395339.1:p.Ile727Lys missense NM_001408411.1:c.2177T>A NP_001395340.1:p.Ile726Lys missense NM_001408412.1:c.2174T>A NP_001395341.1:p.Ile725Lys missense NM_001408413.1:c.2174T>A NP_001395342.1:p.Ile725Lys missense NM_001408414.1:c.2174T>A NP_001395343.1:p.Ile725Lys missense NM_001408415.1:c.2174T>A NP_001395344.1:p.Ile725Lys missense NM_001408416.1:c.2174T>A NP_001395345.1:p.Ile725Lys missense NM_001408418.1:c.2138T>A NP_001395347.1:p.Ile713Lys missense NM_001408419.1:c.2138T>A NP_001395348.1:p.Ile713Lys missense NM_001408420.1:c.2138T>A NP_001395349.1:p.Ile713Lys missense NM_001408421.1:c.2135T>A NP_001395350.1:p.Ile712Lys missense NM_001408422.1:c.2135T>A NP_001395351.1:p.Ile712Lys missense NM_001408423.1:c.2135T>A NP_001395352.1:p.Ile712Lys missense NM_001408424.1:c.2135T>A NP_001395353.1:p.Ile712Lys missense NM_001408425.1:c.2132T>A NP_001395354.1:p.Ile711Lys missense NM_001408426.1:c.2132T>A NP_001395355.1:p.Ile711Lys missense NM_001408427.1:c.2132T>A NP_001395356.1:p.Ile711Lys missense NM_001408428.1:c.2132T>A NP_001395357.1:p.Ile711Lys missense NM_001408429.1:c.2132T>A NP_001395358.1:p.Ile711Lys missense NM_001408430.1:c.2132T>A NP_001395359.1:p.Ile711Lys missense NM_001408431.1:c.2132T>A NP_001395360.1:p.Ile711Lys missense NM_001408432.1:c.2129T>A NP_001395361.1:p.Ile710Lys missense NM_001408433.1:c.2129T>A NP_001395362.1:p.Ile710Lys missense NM_001408434.1:c.2129T>A NP_001395363.1:p.Ile710Lys missense NM_001408435.1:c.2129T>A NP_001395364.1:p.Ile710Lys missense NM_001408436.1:c.2129T>A NP_001395365.1:p.Ile710Lys missense NM_001408437.1:c.2129T>A NP_001395366.1:p.Ile710Lys missense NM_001408438.1:c.2129T>A NP_001395367.1:p.Ile710Lys missense NM_001408439.1:c.2129T>A NP_001395368.1:p.Ile710Lys missense NM_001408440.1:c.2129T>A NP_001395369.1:p.Ile710Lys missense NM_001408441.1:c.2129T>A NP_001395370.1:p.Ile710Lys missense NM_001408442.1:c.2129T>A NP_001395371.1:p.Ile710Lys missense NM_001408443.1:c.2129T>A NP_001395372.1:p.Ile710Lys missense NM_001408444.1:c.2129T>A NP_001395373.1:p.Ile710Lys missense NM_001408445.1:c.2126T>A NP_001395374.1:p.Ile709Lys missense NM_001408446.1:c.2126T>A NP_001395375.1:p.Ile709Lys missense NM_001408447.1:c.2126T>A NP_001395376.1:p.Ile709Lys missense NM_001408448.1:c.2126T>A NP_001395377.1:p.Ile709Lys missense NM_001408450.1:c.2126T>A NP_001395379.1:p.Ile709Lys missense NM_001408451.1:c.2120T>A NP_001395380.1:p.Ile707Lys missense NM_001408452.1:c.2114T>A NP_001395381.1:p.Ile705Lys missense NM_001408453.1:c.2114T>A NP_001395382.1:p.Ile705Lys missense NM_001408454.1:c.2114T>A NP_001395383.1:p.Ile705Lys missense NM_001408455.1:c.2114T>A NP_001395384.1:p.Ile705Lys missense NM_001408456.1:c.2114T>A NP_001395385.1:p.Ile705Lys missense NM_001408457.1:c.2114T>A NP_001395386.1:p.Ile705Lys missense NM_001408458.1:c.2111T>A NP_001395387.1:p.Ile704Lys missense NM_001408459.1:c.2111T>A NP_001395388.1:p.Ile704Lys missense NM_001408460.1:c.2111T>A NP_001395389.1:p.Ile704Lys missense NM_001408461.1:c.2111T>A NP_001395390.1:p.Ile704Lys missense NM_001408462.1:c.2111T>A NP_001395391.1:p.Ile704Lys missense NM_001408463.1:c.2111T>A NP_001395392.1:p.Ile704Lys missense NM_001408464.1:c.2111T>A NP_001395393.1:p.Ile704Lys missense NM_001408465.1:c.2111T>A NP_001395394.1:p.Ile704Lys missense NM_001408466.1:c.2111T>A NP_001395395.1:p.Ile704Lys missense NM_001408467.1:c.2111T>A NP_001395396.1:p.Ile704Lys missense NM_001408468.1:c.2108T>A NP_001395397.1:p.Ile703Lys missense NM_001408469.1:c.2108T>A NP_001395398.1:p.Ile703Lys missense NM_001408470.1:c.2108T>A NP_001395399.1:p.Ile703Lys missense NM_001408472.1:c.*78T>A NM_001408473.1:c.*78T>A NM_001408474.1:c.2054T>A NP_001395403.1:p.Ile685Lys missense NM_001408475.1:c.2051T>A NP_001395404.1:p.Ile684Lys missense NM_001408476.1:c.2051T>A NP_001395405.1:p.Ile684Lys missense NM_001408478.1:c.2045T>A NP_001395407.1:p.Ile682Lys missense NM_001408479.1:c.2045T>A NP_001395408.1:p.Ile682Lys missense NM_001408480.1:c.2045T>A NP_001395409.1:p.Ile682Lys missense NM_001408481.1:c.2042T>A NP_001395410.1:p.Ile681Lys missense NM_001408482.1:c.2042T>A NP_001395411.1:p.Ile681Lys missense NM_001408483.1:c.2042T>A NP_001395412.1:p.Ile681Lys missense NM_001408484.1:c.2042T>A NP_001395413.1:p.Ile681Lys missense NM_001408485.1:c.2042T>A NP_001395414.1:p.Ile681Lys missense NM_001408489.1:c.2042T>A NP_001395418.1:p.Ile681Lys missense NM_001408490.1:c.2042T>A NP_001395419.1:p.Ile681Lys missense NM_001408491.1:c.2042T>A NP_001395420.1:p.Ile681Lys missense NM_001408492.1:c.2039T>A NP_001395421.1:p.Ile680Lys missense NM_001408493.1:c.2039T>A NP_001395422.1:p.Ile680Lys missense NM_001408494.1:c.2015T>A NP_001395423.1:p.Ile672Lys missense NM_001408495.1:c.2009T>A NP_001395424.1:p.Ile670Lys missense NM_001408496.1:c.1991T>A NP_001395425.1:p.Ile664Lys missense NM_001408497.1:c.1991T>A NP_001395426.1:p.Ile664Lys missense NM_001408498.1:c.1991T>A NP_001395427.1:p.Ile664Lys missense NM_001408499.1:c.1991T>A NP_001395428.1:p.Ile664Lys missense NM_001408500.1:c.1991T>A NP_001395429.1:p.Ile664Lys missense NM_001408501.1:c.1991T>A NP_001395430.1:p.Ile664Lys missense NM_001408502.1:c.1988T>A NP_001395431.1:p.Ile663Lys missense NM_001408503.1:c.1988T>A NP_001395432.1:p.Ile663Lys missense NM_001408504.1:c.1988T>A NP_001395433.1:p.Ile663Lys missense NM_001408505.1:c.1985T>A NP_001395434.1:p.Ile662Lys missense NM_001408506.1:c.1928T>A NP_001395435.1:p.Ile643Lys missense NM_001408507.1:c.1925T>A NP_001395436.1:p.Ile642Lys missense NM_001408508.1:c.1916T>A NP_001395437.1:p.Ile639Lys missense NM_001408509.1:c.1913T>A NP_001395438.1:p.Ile638Lys missense NM_001408510.1:c.1874T>A NP_001395439.1:p.Ile625Lys missense NM_001408511.1:c.1871T>A NP_001395440.1:p.Ile624Lys missense NM_001408512.1:c.1751T>A NP_001395441.1:p.Ile584Lys missense NM_001408513.1:c.1724T>A NP_001395442.1:p.Ile575Lys missense NM_001408514.1:c.1328T>A NP_001395443.1:p.Ile443Lys missense NM_007297.4:c.5423T>A NP_009228.2:p.Ile1808Lys missense NM_007298.4:c.2252T>A NP_009229.2:p.Ile751Lys missense NM_007299.4:c.*78T>A 3 prime UTR NM_007300.4:c.5627T>A NP_009231.2:p.Ile1876Lys missense NM_007304.2:c.2252T>A NP_009235.2:p.Ile751Lys missense NR_027676.2:n.5741T>A non-coding transcript variant NC_000017.11:g.43045706A>T NC_000017.10:g.41197723A>T NG_005905.2:g.172278T>A LRG_292:g.172278T>A LRG_292t1:c.5564T>A LRG_292p1:p.Ile1855Lys - Protein change
- I1855K, I1876K, I751K, I1808K, I1686K, I1726K, I1742K, I1767K, I1783K, I1784K, I1786K, I1814K, I1829K, I1850K, I1854K, I575K, I638K, I639K, I663K, I680K, I703K, I707K, I749K, I750K, I752K, I774K, I1558K, I1701K, I1727K, I1771K, I1806K, I1807K, I1827K, I1836K, I1877K, I584K, I625K, I642K, I670K, I681K, I682K, I986K, I1743K, I1744K, I1787K, I1788K, I1812K, I1828K, I1835K, I1852K, I443K, I643K, I662K, I664K, I684K, I704K, I705K, I710K, I711K, I748K, I1559K, I1728K, I1765K, I1766K, I1785K, I1811K, I1813K, I1851K, I1853K, I1875K, I624K, I672K, I685K, I709K, I712K, I713K, I725K, I726K, I727K, I773K, I987K
- Other names
- -
- Canonical SPDI
- NC_000017.11:43045705:A:T
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- function_uncertain_variant Sequence Ontology [SO:0002220]
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5564T>A, a MISSENSE variant, produced a function score of -0.86, corresponding to a functional classification of INTERMEDIATE. 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 |
13016 | 14818 |
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
|
- | RCV001077622.3 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Feb 9, 2024 | RCV004031209.1 |
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
(Feb 09, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV005026089.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
Comment:
The p.I1855K variant (also known as c.5564T>A), located in coding exon 22 of the BRCA1 gene, results from a T to A substitution at nucleotide … (more)
The p.I1855K variant (also known as c.5564T>A), located in coding exon 22 of the BRCA1 gene, results from a T to A substitution at nucleotide position 5564. The isoleucine at codon 1855 is replaced by lysine, an amino acid with dissimilar properties. One functional study found that this nucleotide substitution is indeterminant in a high throughput genome editing haploid cell survival assay (Findlay GM et al. Nature, 2018 Oct;562:217-222). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear. (less)
|
|
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: SCV001243579.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
INTERMEDIATE:-0.863843894941789
|
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. |
---|---|---|---|---|
function_uncertain_variant
|
Method citation(s):
|
|
Brotman Baty Institute, University of Washington
Accession: SCV001243579.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5564T>A, a MISSENSE variant, produced a function score of -0.86, corresponding to a functional classification of INTERMEDIATE. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5564T>A, a MISSENSE variant, produced a function score of -0.86, corresponding to a functional classification of INTERMEDIATE. 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 rs900082291 ...
HelpRecord last updated Jun 23, 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.