ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5548del (p.Leu1850fs)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.5548del (p.Leu1850fs)
Variation ID: 55623 Accession: VCV000055623.7
- Type and length
-
Deletion, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43045722 (GRCh38) [ NCBI UCSC ] 17: 41197739 (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 Oct 22, 2016 Feb 7, 2023 Oct 18, 2016 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.5548del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Leu1850fs frameshift NM_001407571.1:c.5335delC NP_001394500.1:p.Leu1779Trpfs frameshift NM_001407581.1:c.5614delC NP_001394510.1:p.Leu1872Trpfs frameshift NM_001407582.1:c.5614delC NP_001394511.1:p.Leu1872Trpfs frameshift NM_001407583.1:c.5611delC NP_001394512.1:p.Leu1871Trpfs frameshift NM_001407585.1:c.5611delC NP_001394514.1:p.Leu1871Trpfs frameshift NM_001407587.1:c.5611delC NP_001394516.1:p.Leu1871Trpfs frameshift NM_001407590.1:c.5608delC NP_001394519.1:p.Leu1870Trpfs frameshift NM_001407591.1:c.5608delC NP_001394520.1:p.Leu1870Trpfs frameshift NM_001407593.1:c.5548delC NP_001394522.1:p.Leu1850Trpfs frameshift NM_001407594.1:c.5548delC NP_001394523.1:p.Leu1850Trpfs frameshift NM_001407596.1:c.5548delC NP_001394525.1:p.Leu1850Trpfs frameshift NM_001407597.1:c.5548delC NP_001394526.1:p.Leu1850Trpfs frameshift NM_001407598.1:c.5548delC NP_001394527.1:p.Leu1850Trpfs frameshift NM_001407602.1:c.5548delC NP_001394531.1:p.Leu1850Trpfs frameshift NM_001407603.1:c.5548delC NP_001394532.1:p.Leu1850Trpfs frameshift NM_001407605.1:c.5548delC NP_001394534.1:p.Leu1850Trpfs frameshift NM_001407610.1:c.5545delC NP_001394539.1:p.Leu1849Trpfs frameshift NM_001407611.1:c.5545delC NP_001394540.1:p.Leu1849Trpfs frameshift NM_001407612.1:c.5545delC NP_001394541.1:p.Leu1849Trpfs frameshift NM_001407613.1:c.5545delC NP_001394542.1:p.Leu1849Trpfs frameshift NM_001407614.1:c.5545delC NP_001394543.1:p.Leu1849Trpfs frameshift NM_001407615.1:c.5545delC NP_001394544.1:p.Leu1849Trpfs frameshift NM_001407616.1:c.5545delC NP_001394545.1:p.Leu1849Trpfs frameshift NM_001407617.1:c.5545delC NP_001394546.1:p.Leu1849Trpfs frameshift NM_001407618.1:c.5545delC NP_001394547.1:p.Leu1849Trpfs frameshift NM_001407619.1:c.5545delC NP_001394548.1:p.Leu1849Trpfs frameshift NM_001407620.1:c.5545delC NP_001394549.1:p.Leu1849Trpfs frameshift NM_001407621.1:c.5545delC NP_001394550.1:p.Leu1849Trpfs frameshift NM_001407622.1:c.5545delC NP_001394551.1:p.Leu1849Trpfs frameshift NM_001407623.1:c.5545delC NP_001394552.1:p.Leu1849Trpfs frameshift NM_001407624.1:c.5545delC NP_001394553.1:p.Leu1849Trpfs frameshift NM_001407625.1:c.5545delC NP_001394554.1:p.Leu1849Trpfs frameshift NM_001407626.1:c.5545delC NP_001394555.1:p.Leu1849Trpfs frameshift NM_001407627.1:c.5542delC NP_001394556.1:p.Leu1848Trpfs frameshift NM_001407628.1:c.5542delC NP_001394557.1:p.Leu1848Trpfs frameshift NM_001407629.1:c.5542delC NP_001394558.1:p.Leu1848Trpfs frameshift NM_001407630.1:c.5542delC NP_001394559.1:p.Leu1848Trpfs frameshift NM_001407631.1:c.5542delC NP_001394560.1:p.Leu1848Trpfs frameshift NM_001407632.1:c.5542delC NP_001394561.1:p.Leu1848Trpfs frameshift NM_001407633.1:c.5542delC NP_001394562.1:p.Leu1848Trpfs frameshift NM_001407634.1:c.5542delC NP_001394563.1:p.Leu1848Trpfs frameshift NM_001407635.1:c.5542delC NP_001394564.1:p.Leu1848Trpfs frameshift NM_001407636.1:c.5542delC NP_001394565.1:p.Leu1848Trpfs frameshift NM_001407637.1:c.5542delC NP_001394566.1:p.Leu1848Trpfs frameshift NM_001407638.1:c.5542delC NP_001394567.1:p.Leu1848Trpfs frameshift NM_001407639.1:c.5542delC NP_001394568.1:p.Leu1848Trpfs frameshift NM_001407640.1:c.5542delC NP_001394569.1:p.Leu1848Trpfs frameshift NM_001407641.1:c.5542delC NP_001394570.1:p.Leu1848Trpfs frameshift NM_001407642.1:c.5542delC NP_001394571.1:p.Leu1848Trpfs frameshift NM_001407644.1:c.5539delC NP_001394573.1:p.Leu1847Trpfs frameshift NM_001407645.1:c.5539delC NP_001394574.1:p.Leu1847Trpfs frameshift NM_001407646.1:c.5536delC NP_001394575.1:p.Leu1846Trpfs frameshift NM_001407647.1:c.5533delC NP_001394576.1:p.Leu1845Trpfs frameshift NM_001407648.1:c.5491delC NP_001394577.1:p.Leu1831Trpfs frameshift NM_001407649.1:c.5488delC NP_001394578.1:p.Leu1830Trpfs frameshift NM_001407652.1:c.5470delC NP_001394581.1:p.Leu1824Trpfs frameshift NM_001407653.1:c.5470delC NP_001394582.1:p.Leu1824Trpfs frameshift NM_001407654.1:c.5470delC NP_001394583.1:p.Leu1824Trpfs frameshift NM_001407655.1:c.5470delC NP_001394584.1:p.Leu1824Trpfs frameshift NM_001407656.1:c.5467delC NP_001394585.1:p.Leu1823Trpfs frameshift NM_001407657.1:c.5467delC NP_001394586.1:p.Leu1823Trpfs frameshift NM_001407658.1:c.5467delC NP_001394587.1:p.Leu1823Trpfs frameshift NM_001407659.1:c.5464delC NP_001394588.1:p.Leu1822Trpfs frameshift NM_001407660.1:c.5464delC NP_001394589.1:p.Leu1822Trpfs frameshift NM_001407661.1:c.5464delC NP_001394590.1:p.Leu1822Trpfs frameshift NM_001407662.1:c.5464delC NP_001394591.1:p.Leu1822Trpfs frameshift NM_001407663.1:c.5464delC NP_001394592.1:p.Leu1822Trpfs frameshift NM_001407664.1:c.5425delC NP_001394593.1:p.Leu1809Trpfs frameshift NM_001407665.1:c.5425delC NP_001394594.1:p.Leu1809Trpfs frameshift NM_001407666.1:c.5425delC NP_001394595.1:p.Leu1809Trpfs frameshift NM_001407667.1:c.5425delC NP_001394596.1:p.Leu1809Trpfs frameshift NM_001407668.1:c.5425delC NP_001394597.1:p.Leu1809Trpfs frameshift NM_001407669.1:c.5425delC NP_001394598.1:p.Leu1809Trpfs frameshift NM_001407670.1:c.5422delC NP_001394599.1:p.Leu1808Trpfs frameshift NM_001407671.1:c.5422delC NP_001394600.1:p.Leu1808Trpfs frameshift NM_001407672.1:c.5422delC NP_001394601.1:p.Leu1808Trpfs frameshift NM_001407673.1:c.5422delC NP_001394602.1:p.Leu1808Trpfs frameshift NM_001407674.1:c.5422delC NP_001394603.1:p.Leu1808Trpfs frameshift NM_001407675.1:c.5422delC NP_001394604.1:p.Leu1808Trpfs frameshift NM_001407676.1:c.5422delC NP_001394605.1:p.Leu1808Trpfs frameshift NM_001407677.1:c.5422delC NP_001394606.1:p.Leu1808Trpfs frameshift NM_001407678.1:c.5422delC NP_001394607.1:p.Leu1808Trpfs frameshift NM_001407679.1:c.5422delC NP_001394608.1:p.Leu1808Trpfs frameshift NM_001407680.1:c.5422delC NP_001394609.1:p.Leu1808Trpfs frameshift NM_001407681.1:c.5419delC NP_001394610.1:p.Leu1807Trpfs frameshift NM_001407682.1:c.5419delC NP_001394611.1:p.Leu1807Trpfs frameshift NM_001407683.1:c.5419delC NP_001394612.1:p.Leu1807Trpfs frameshift NM_001407684.1:c.5419delC NP_001394613.1:p.Leu1807Trpfs frameshift NM_001407685.1:c.5419delC NP_001394614.1:p.Leu1807Trpfs frameshift NM_001407686.1:c.5419delC NP_001394615.1:p.Leu1807Trpfs frameshift NM_001407687.1:c.5419delC NP_001394616.1:p.Leu1807Trpfs frameshift NM_001407688.1:c.5419delC NP_001394617.1:p.Leu1807Trpfs frameshift NM_001407689.1:c.5419delC NP_001394618.1:p.Leu1807Trpfs frameshift NM_001407690.1:c.5416delC NP_001394619.1:p.Leu1806Trpfs frameshift NM_001407691.1:c.5416delC NP_001394620.1:p.Leu1806Trpfs frameshift NM_001407692.1:c.5407delC NP_001394621.1:p.Leu1803Trpfs frameshift NM_001407694.1:c.5407delC NP_001394623.1:p.Leu1803Trpfs frameshift NM_001407695.1:c.5407delC NP_001394624.1:p.Leu1803Trpfs frameshift NM_001407696.1:c.5407delC NP_001394625.1:p.Leu1803Trpfs frameshift NM_001407697.1:c.5407delC NP_001394626.1:p.Leu1803Trpfs frameshift NM_001407698.1:c.5407delC NP_001394627.1:p.Leu1803Trpfs frameshift NM_001407724.1:c.5407delC NP_001394653.1:p.Leu1803Trpfs frameshift NM_001407725.1:c.5407delC NP_001394654.1:p.Leu1803Trpfs frameshift NM_001407726.1:c.5407delC NP_001394655.1:p.Leu1803Trpfs frameshift NM_001407727.1:c.5407delC NP_001394656.1:p.Leu1803Trpfs frameshift NM_001407728.1:c.5407delC NP_001394657.1:p.Leu1803Trpfs frameshift NM_001407729.1:c.5407delC NP_001394658.1:p.Leu1803Trpfs frameshift NM_001407730.1:c.5407delC NP_001394659.1:p.Leu1803Trpfs frameshift NM_001407731.1:c.5407delC NP_001394660.1:p.Leu1803Trpfs frameshift NM_001407732.1:c.5404delC NP_001394661.1:p.Leu1802Trpfs frameshift NM_001407733.1:c.5404delC NP_001394662.1:p.Leu1802Trpfs frameshift NM_001407734.1:c.5404delC NP_001394663.1:p.Leu1802Trpfs frameshift NM_001407735.1:c.5404delC NP_001394664.1:p.Leu1802Trpfs frameshift NM_001407736.1:c.5404delC NP_001394665.1:p.Leu1802Trpfs frameshift NM_001407737.1:c.5404delC NP_001394666.1:p.Leu1802Trpfs frameshift NM_001407738.1:c.5404delC NP_001394667.1:p.Leu1802Trpfs frameshift NM_001407739.1:c.5404delC NP_001394668.1:p.Leu1802Trpfs frameshift NM_001407740.1:c.5404delC NP_001394669.1:p.Leu1802Trpfs frameshift NM_001407741.1:c.5404delC NP_001394670.1:p.Leu1802Trpfs frameshift NM_001407742.1:c.5404delC NP_001394671.1:p.Leu1802Trpfs frameshift NM_001407743.1:c.5404delC NP_001394672.1:p.Leu1802Trpfs frameshift NM_001407744.1:c.5404delC NP_001394673.1:p.Leu1802Trpfs frameshift NM_001407745.1:c.5404delC NP_001394674.1:p.Leu1802Trpfs frameshift NM_001407746.1:c.5404delC NP_001394675.1:p.Leu1802Trpfs frameshift NM_001407747.1:c.5404delC NP_001394676.1:p.Leu1802Trpfs frameshift NM_001407748.1:c.5404delC NP_001394677.1:p.Leu1802Trpfs frameshift NM_001407749.1:c.5404delC NP_001394678.1:p.Leu1802Trpfs frameshift NM_001407750.1:c.5404delC NP_001394679.1:p.Leu1802Trpfs frameshift NM_001407751.1:c.5404delC NP_001394680.1:p.Leu1802Trpfs frameshift NM_001407752.1:c.5404delC NP_001394681.1:p.Leu1802Trpfs frameshift NM_001407838.1:c.5401delC NP_001394767.1:p.Leu1801Trpfs frameshift NM_001407839.1:c.5401delC NP_001394768.1:p.Leu1801Trpfs frameshift NM_001407841.1:c.5401delC NP_001394770.1:p.Leu1801Trpfs frameshift NM_001407842.1:c.5401delC NP_001394771.1:p.Leu1801Trpfs frameshift NM_001407843.1:c.5401delC NP_001394772.1:p.Leu1801Trpfs frameshift NM_001407844.1:c.5401delC NP_001394773.1:p.Leu1801Trpfs frameshift NM_001407845.1:c.5401delC NP_001394774.1:p.Leu1801Trpfs frameshift NM_001407846.1:c.5401delC NP_001394775.1:p.Leu1801Trpfs frameshift NM_001407847.1:c.5401delC NP_001394776.1:p.Leu1801Trpfs frameshift NM_001407848.1:c.5401delC NP_001394777.1:p.Leu1801Trpfs frameshift NM_001407849.1:c.5401delC NP_001394778.1:p.Leu1801Trpfs frameshift NM_001407850.1:c.5401delC NP_001394779.1:p.Leu1801Trpfs frameshift NM_001407851.1:c.5401delC NP_001394780.1:p.Leu1801Trpfs frameshift NM_001407852.1:c.5401delC NP_001394781.1:p.Leu1801Trpfs frameshift NM_001407853.1:c.5401delC NP_001394782.1:p.Leu1801Trpfs frameshift NM_001407854.1:c.*62delC NM_001407858.1:c.*62delC NM_001407859.1:c.*62delC NM_001407860.1:c.*62delC NM_001407861.1:c.*62delC NM_001407862.1:c.5347delC NP_001394791.1:p.Leu1783Trpfs frameshift NM_001407863.1:c.5344delC NP_001394792.1:p.Leu1782Trpfs frameshift NM_001407874.1:c.5341delC NP_001394803.1:p.Leu1781Trpfs frameshift NM_001407875.1:c.5341delC NP_001394804.1:p.Leu1781Trpfs frameshift NM_001407879.1:c.5338delC NP_001394808.1:p.Leu1780Trpfs frameshift NM_001407881.1:c.5338delC NP_001394810.1:p.Leu1780Trpfs frameshift NM_001407882.1:c.5338delC NP_001394811.1:p.Leu1780Trpfs frameshift NM_001407884.1:c.5338delC NP_001394813.1:p.Leu1780Trpfs frameshift NM_001407885.1:c.5338delC NP_001394814.1:p.Leu1780Trpfs frameshift NM_001407886.1:c.5338delC NP_001394815.1:p.Leu1780Trpfs frameshift NM_001407887.1:c.5338delC NP_001394816.1:p.Leu1780Trpfs frameshift NM_001407889.1:c.5338delC NP_001394818.1:p.Leu1780Trpfs frameshift NM_001407894.1:c.5335delC NP_001394823.1:p.Leu1779Trpfs frameshift NM_001407895.1:c.5335delC NP_001394824.1:p.Leu1779Trpfs frameshift NM_001407896.1:c.5335delC NP_001394825.1:p.Leu1779Trpfs frameshift NM_001407897.1:c.5335delC NP_001394826.1:p.Leu1779Trpfs frameshift NM_001407898.1:c.5335delC NP_001394827.1:p.Leu1779Trpfs frameshift NM_001407899.1:c.5335delC NP_001394828.1:p.Leu1779Trpfs frameshift NM_001407900.1:c.5335delC NP_001394829.1:p.Leu1779Trpfs frameshift NM_001407902.1:c.5335delC NP_001394831.1:p.Leu1779Trpfs frameshift NM_001407904.1:c.5335delC NP_001394833.1:p.Leu1779Trpfs frameshift NM_001407906.1:c.5335delC NP_001394835.1:p.Leu1779Trpfs frameshift NM_001407907.1:c.5335delC NP_001394836.1:p.Leu1779Trpfs frameshift NM_001407908.1:c.5335delC NP_001394837.1:p.Leu1779Trpfs frameshift NM_001407909.1:c.5335delC NP_001394838.1:p.Leu1779Trpfs frameshift NM_001407910.1:c.5335delC NP_001394839.1:p.Leu1779Trpfs frameshift NM_001407915.1:c.5332delC NP_001394844.1:p.Leu1778Trpfs frameshift NM_001407916.1:c.5332delC NP_001394845.1:p.Leu1778Trpfs frameshift NM_001407917.1:c.5332delC NP_001394846.1:p.Leu1778Trpfs frameshift NM_001407918.1:c.5332delC NP_001394847.1:p.Leu1778Trpfs frameshift NM_001407919.1:c.5296delC NP_001394848.1:p.Leu1766Trpfs frameshift NM_001407920.1:c.5284delC NP_001394849.1:p.Leu1762Trpfs frameshift NM_001407921.1:c.5284delC NP_001394850.1:p.Leu1762Trpfs frameshift NM_001407922.1:c.5284delC NP_001394851.1:p.Leu1762Trpfs frameshift NM_001407923.1:c.5284delC NP_001394852.1:p.Leu1762Trpfs frameshift NM_001407924.1:c.5284delC NP_001394853.1:p.Leu1762Trpfs frameshift NM_001407925.1:c.5284delC NP_001394854.1:p.Leu1762Trpfs frameshift NM_001407926.1:c.5284delC NP_001394855.1:p.Leu1762Trpfs frameshift NM_001407927.1:c.5281delC NP_001394856.1:p.Leu1761Trpfs frameshift NM_001407928.1:c.5281delC NP_001394857.1:p.Leu1761Trpfs frameshift NM_001407929.1:c.5281delC NP_001394858.1:p.Leu1761Trpfs frameshift NM_001407930.1:c.5281delC NP_001394859.1:p.Leu1761Trpfs frameshift NM_001407931.1:c.5281delC NP_001394860.1:p.Leu1761Trpfs frameshift NM_001407932.1:c.5281delC NP_001394861.1:p.Leu1761Trpfs frameshift NM_001407933.1:c.5281delC NP_001394862.1:p.Leu1761Trpfs frameshift NM_001407934.1:c.5278delC NP_001394863.1:p.Leu1760Trpfs frameshift NM_001407935.1:c.5278delC NP_001394864.1:p.Leu1760Trpfs frameshift NM_001407936.1:c.5278delC NP_001394865.1:p.Leu1760Trpfs frameshift NM_001407937.1:c.*62delC NM_001407938.1:c.*62delC NM_001407939.1:c.*62delC NM_001407940.1:c.*62delC NM_001407941.1:c.*62delC NM_001407942.1:c.*62delC NM_001407943.1:c.*62delC NM_001407944.1:c.*62delC NM_001407945.1:c.*62delC NM_001407946.1:c.5215delC NP_001394875.1:p.Leu1739Trpfs frameshift NM_001407947.1:c.5215delC NP_001394876.1:p.Leu1739Trpfs frameshift NM_001407948.1:c.5215delC NP_001394877.1:p.Leu1739Trpfs frameshift NM_001407949.1:c.5215delC NP_001394878.1:p.Leu1739Trpfs frameshift NM_001407950.1:c.5212delC NP_001394879.1:p.Leu1738Trpfs frameshift NM_001407951.1:c.5212delC NP_001394880.1:p.Leu1738Trpfs frameshift NM_001407952.1:c.5212delC NP_001394881.1:p.Leu1738Trpfs frameshift NM_001407953.1:c.5212delC NP_001394882.1:p.Leu1738Trpfs frameshift NM_001407954.1:c.5212delC NP_001394883.1:p.Leu1738Trpfs frameshift NM_001407955.1:c.5212delC NP_001394884.1:p.Leu1738Trpfs frameshift NM_001407956.1:c.5209delC NP_001394885.1:p.Leu1737Trpfs frameshift NM_001407957.1:c.5209delC NP_001394886.1:p.Leu1737Trpfs frameshift NM_001407958.1:c.5209delC NP_001394887.1:p.Leu1737Trpfs frameshift NM_001407959.1:c.5167delC NP_001394888.1:p.Leu1723Trpfs frameshift NM_001407960.1:c.5164delC NP_001394889.1:p.Leu1722Trpfs frameshift NM_001407962.1:c.5164delC NP_001394891.1:p.Leu1722Trpfs frameshift NM_001407963.1:c.5161delC NP_001394892.1:p.Leu1721Trpfs frameshift NM_001407964.1:c.5086delC NP_001394893.1:p.Leu1696Trpfs frameshift NM_001407965.1:c.5041delC NP_001394894.1:p.Leu1681Trpfs frameshift NM_001407966.1:c.4660delC NP_001394895.1:p.Leu1554Trpfs frameshift NM_001407967.1:c.4657delC NP_001394896.1:p.Leu1553Trpfs frameshift NM_001407968.1:c.2944delC NP_001394897.1:p.Leu982Trpfs frameshift NM_001407969.1:c.2941delC NP_001394898.1:p.Leu981Trpfs frameshift NM_001407970.1:c.2305delC NP_001394899.1:p.Leu769Trpfs frameshift NM_001407971.1:c.2305delC NP_001394900.1:p.Leu769Trpfs frameshift NM_001407972.1:c.2302delC NP_001394901.1:p.Leu768Trpfs frameshift NM_001407973.1:c.2239delC NP_001394902.1:p.Leu747Trpfs frameshift NM_001407974.1:c.2239delC NP_001394903.1:p.Leu747Trpfs frameshift NM_001407975.1:c.2239delC NP_001394904.1:p.Leu747Trpfs frameshift NM_001407976.1:c.2239delC NP_001394905.1:p.Leu747Trpfs frameshift NM_001407977.1:c.2239delC NP_001394906.1:p.Leu747Trpfs frameshift NM_001407978.1:c.2239delC NP_001394907.1:p.Leu747Trpfs frameshift NM_001407979.1:c.2236delC NP_001394908.1:p.Leu746Trpfs frameshift NM_001407980.1:c.2236delC NP_001394909.1:p.Leu746Trpfs frameshift NM_001407981.1:c.2236delC NP_001394910.1:p.Leu746Trpfs frameshift NM_001407982.1:c.2236delC NP_001394911.1:p.Leu746Trpfs frameshift NM_001407983.1:c.2236delC NP_001394912.1:p.Leu746Trpfs frameshift NM_001407984.1:c.2236delC NP_001394913.1:p.Leu746Trpfs frameshift NM_001407985.1:c.2236delC NP_001394914.1:p.Leu746Trpfs frameshift NM_001407986.1:c.2236delC NP_001394915.1:p.Leu746Trpfs frameshift NM_001407990.1:c.2236delC NP_001394919.1:p.Leu746Trpfs frameshift NM_001407991.1:c.2236delC NP_001394920.1:p.Leu746Trpfs frameshift NM_001407992.1:c.2236delC NP_001394921.1:p.Leu746Trpfs frameshift NM_001407993.1:c.2236delC NP_001394922.1:p.Leu746Trpfs frameshift NM_001408392.1:c.2233delC NP_001395321.1:p.Leu745Trpfs frameshift NM_001408396.1:c.2233delC NP_001395325.1:p.Leu745Trpfs frameshift NM_001408397.1:c.2233delC NP_001395326.1:p.Leu745Trpfs frameshift NM_001408398.1:c.2233delC NP_001395327.1:p.Leu745Trpfs frameshift NM_001408399.1:c.2233delC NP_001395328.1:p.Leu745Trpfs frameshift NM_001408400.1:c.2233delC NP_001395329.1:p.Leu745Trpfs frameshift NM_001408401.1:c.2233delC NP_001395330.1:p.Leu745Trpfs frameshift NM_001408402.1:c.2233delC NP_001395331.1:p.Leu745Trpfs frameshift NM_001408403.1:c.2233delC NP_001395332.1:p.Leu745Trpfs frameshift NM_001408404.1:c.2233delC NP_001395333.1:p.Leu745Trpfs frameshift NM_001408406.1:c.2230delC NP_001395335.1:p.Leu744Trpfs frameshift NM_001408407.1:c.2230delC NP_001395336.1:p.Leu744Trpfs frameshift NM_001408408.1:c.2230delC NP_001395337.1:p.Leu744Trpfs frameshift NM_001408409.1:c.2227delC NP_001395338.1:p.Leu743Trpfs frameshift NM_001408410.1:c.2164delC NP_001395339.1:p.Leu722Trpfs frameshift NM_001408411.1:c.2161delC NP_001395340.1:p.Leu721Trpfs frameshift NM_001408412.1:c.2158delC NP_001395341.1:p.Leu720Trpfs frameshift NM_001408413.1:c.2158delC NP_001395342.1:p.Leu720Trpfs frameshift NM_001408414.1:c.2158delC NP_001395343.1:p.Leu720Trpfs frameshift NM_001408415.1:c.2158delC NP_001395344.1:p.Leu720Trpfs frameshift NM_001408416.1:c.2158delC NP_001395345.1:p.Leu720Trpfs frameshift NM_001408418.1:c.2122delC NP_001395347.1:p.Leu708Trpfs frameshift NM_001408419.1:c.2122delC NP_001395348.1:p.Leu708Trpfs frameshift NM_001408420.1:c.2122delC NP_001395349.1:p.Leu708Trpfs frameshift NM_001408421.1:c.2119delC NP_001395350.1:p.Leu707Trpfs frameshift NM_001408422.1:c.2119delC NP_001395351.1:p.Leu707Trpfs frameshift NM_001408423.1:c.2119delC NP_001395352.1:p.Leu707Trpfs frameshift NM_001408424.1:c.2119delC NP_001395353.1:p.Leu707Trpfs frameshift NM_001408425.1:c.2116delC NP_001395354.1:p.Leu706Trpfs frameshift NM_001408426.1:c.2116delC NP_001395355.1:p.Leu706Trpfs frameshift NM_001408427.1:c.2116delC NP_001395356.1:p.Leu706Trpfs frameshift NM_001408428.1:c.2116delC NP_001395357.1:p.Leu706Trpfs frameshift NM_001408429.1:c.2116delC NP_001395358.1:p.Leu706Trpfs frameshift NM_001408430.1:c.2116delC NP_001395359.1:p.Leu706Trpfs frameshift NM_001408431.1:c.2116delC NP_001395360.1:p.Leu706Trpfs frameshift NM_001408432.1:c.2113delC NP_001395361.1:p.Leu705Trpfs frameshift NM_001408433.1:c.2113delC NP_001395362.1:p.Leu705Trpfs frameshift NM_001408434.1:c.2113delC NP_001395363.1:p.Leu705Trpfs frameshift NM_001408435.1:c.2113delC NP_001395364.1:p.Leu705Trpfs frameshift NM_001408436.1:c.2113delC NP_001395365.1:p.Leu705Trpfs frameshift NM_001408437.1:c.2113delC NP_001395366.1:p.Leu705Trpfs frameshift NM_001408438.1:c.2113delC NP_001395367.1:p.Leu705Trpfs frameshift NM_001408439.1:c.2113delC NP_001395368.1:p.Leu705Trpfs frameshift NM_001408440.1:c.2113delC NP_001395369.1:p.Leu705Trpfs frameshift NM_001408441.1:c.2113delC NP_001395370.1:p.Leu705Trpfs frameshift NM_001408442.1:c.2113delC NP_001395371.1:p.Leu705Trpfs frameshift NM_001408443.1:c.2113delC NP_001395372.1:p.Leu705Trpfs frameshift NM_001408444.1:c.2113delC NP_001395373.1:p.Leu705Trpfs frameshift NM_001408445.1:c.2110delC NP_001395374.1:p.Leu704Trpfs frameshift NM_001408446.1:c.2110delC NP_001395375.1:p.Leu704Trpfs frameshift NM_001408447.1:c.2110delC NP_001395376.1:p.Leu704Trpfs frameshift NM_001408448.1:c.2110delC NP_001395377.1:p.Leu704Trpfs frameshift NM_001408450.1:c.2110delC NP_001395379.1:p.Leu704Trpfs frameshift NM_001408451.1:c.2104delC NP_001395380.1:p.Leu702Trpfs frameshift NM_001408452.1:c.2098delC NP_001395381.1:p.Leu700Trpfs frameshift NM_001408453.1:c.2098delC NP_001395382.1:p.Leu700Trpfs frameshift NM_001408454.1:c.2098delC NP_001395383.1:p.Leu700Trpfs frameshift NM_001408455.1:c.2098delC NP_001395384.1:p.Leu700Trpfs frameshift NM_001408456.1:c.2098delC NP_001395385.1:p.Leu700Trpfs frameshift NM_001408457.1:c.2098delC NP_001395386.1:p.Leu700Trpfs frameshift NM_001408458.1:c.2095delC NP_001395387.1:p.Leu699Trpfs frameshift NM_001408459.1:c.2095delC NP_001395388.1:p.Leu699Trpfs frameshift NM_001408460.1:c.2095delC NP_001395389.1:p.Leu699Trpfs frameshift NM_001408461.1:c.2095delC NP_001395390.1:p.Leu699Trpfs frameshift NM_001408462.1:c.2095delC NP_001395391.1:p.Leu699Trpfs frameshift NM_001408463.1:c.2095delC NP_001395392.1:p.Leu699Trpfs frameshift NM_001408464.1:c.2095delC NP_001395393.1:p.Leu699Trpfs frameshift NM_001408465.1:c.2095delC NP_001395394.1:p.Leu699Trpfs frameshift NM_001408466.1:c.2095delC NP_001395395.1:p.Leu699Trpfs frameshift NM_001408467.1:c.2095delC NP_001395396.1:p.Leu699Trpfs frameshift NM_001408468.1:c.2092delC NP_001395397.1:p.Leu698Trpfs frameshift NM_001408469.1:c.2092delC NP_001395398.1:p.Leu698Trpfs frameshift NM_001408470.1:c.2092delC NP_001395399.1:p.Leu698Trpfs frameshift NM_001408472.1:c.*62delC NM_001408473.1:c.*62delC NM_001408474.1:c.2038delC NP_001395403.1:p.Leu680Trpfs frameshift NM_001408475.1:c.2035delC NP_001395404.1:p.Leu679Trpfs frameshift NM_001408476.1:c.2035delC NP_001395405.1:p.Leu679Trpfs frameshift NM_001408478.1:c.2029delC NP_001395407.1:p.Leu677Trpfs frameshift NM_001408479.1:c.2029delC NP_001395408.1:p.Leu677Trpfs frameshift NM_001408480.1:c.2029delC NP_001395409.1:p.Leu677Trpfs frameshift NM_001408481.1:c.2026delC NP_001395410.1:p.Leu676Trpfs frameshift NM_001408482.1:c.2026delC NP_001395411.1:p.Leu676Trpfs frameshift NM_001408483.1:c.2026delC NP_001395412.1:p.Leu676Trpfs frameshift NM_001408484.1:c.2026delC NP_001395413.1:p.Leu676Trpfs frameshift NM_001408485.1:c.2026delC NP_001395414.1:p.Leu676Trpfs frameshift NM_001408489.1:c.2026delC NP_001395418.1:p.Leu676Trpfs frameshift NM_001408490.1:c.2026delC NP_001395419.1:p.Leu676Trpfs frameshift NM_001408491.1:c.2026delC NP_001395420.1:p.Leu676Trpfs frameshift NM_001408492.1:c.2023delC NP_001395421.1:p.Leu675Trpfs frameshift NM_001408493.1:c.2023delC NP_001395422.1:p.Leu675Trpfs frameshift NM_001408494.1:c.1999delC NP_001395423.1:p.Leu667Trpfs frameshift NM_001408495.1:c.1993delC NP_001395424.1:p.Leu665Trpfs frameshift NM_001408496.1:c.1975delC NP_001395425.1:p.Leu659Trpfs frameshift NM_001408497.1:c.1975delC NP_001395426.1:p.Leu659Trpfs frameshift NM_001408498.1:c.1975delC NP_001395427.1:p.Leu659Trpfs frameshift NM_001408499.1:c.1975delC NP_001395428.1:p.Leu659Trpfs frameshift NM_001408500.1:c.1975delC NP_001395429.1:p.Leu659Trpfs frameshift NM_001408501.1:c.1975delC NP_001395430.1:p.Leu659Trpfs frameshift NM_001408502.1:c.1972delC NP_001395431.1:p.Leu658Trpfs frameshift NM_001408503.1:c.1972delC NP_001395432.1:p.Leu658Trpfs frameshift NM_001408504.1:c.1972delC NP_001395433.1:p.Leu658Trpfs frameshift NM_001408505.1:c.1969delC NP_001395434.1:p.Leu657Trpfs frameshift NM_001408506.1:c.1912delC NP_001395435.1:p.Leu638Trpfs frameshift NM_001408507.1:c.1909delC NP_001395436.1:p.Leu637Trpfs frameshift NM_001408508.1:c.1900delC NP_001395437.1:p.Leu634Trpfs frameshift NM_001408509.1:c.1897delC NP_001395438.1:p.Leu633Trpfs frameshift NM_001408510.1:c.1858delC NP_001395439.1:p.Leu620Trpfs frameshift NM_001408511.1:c.1855delC NP_001395440.1:p.Leu619Trpfs frameshift NM_001408512.1:c.1735delC NP_001395441.1:p.Leu579Trpfs frameshift NM_001408513.1:c.1708delC NP_001395442.1:p.Leu570Trpfs frameshift NM_001408514.1:c.1312delC NP_001395443.1:p.Leu438Trpfs frameshift NM_007297.4:c.5407del NP_009228.2:p.Leu1803fs frameshift NM_007298.4:c.2236delC NP_009229.2:p.Leu746Trpfs frameshift NM_007299.4:c.*62del 3 prime UTR NM_007300.4:c.5611del NP_009231.2:p.Leu1871fs frameshift NM_007304.2:c.2236delC NP_009235.2:p.Leu746Trpfs frameshift NR_027676.2:n.5725del non-coding transcript variant NC_000017.11:g.43045722del NC_000017.10:g.41197739del NG_005905.2:g.172262del LRG_292:g.172262del LRG_292t1:c.5548del LRG_292p1:p.Leu1850Trpfs - Protein change
- L1803fs, L1850fs, L1871fs, L746fs
- Other names
- 5667delC
- Canonical SPDI
- NC_000017.11:43045721:G:
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
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 |
12879 | 14664 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Pathogenic (2) |
reviewed by expert panel
|
Oct 18, 2016 | RCV000257302.13 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
---|---|---|---|---|---|
Pathogenic
(Oct 18, 2016)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000323888.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000326357.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs397509296 ...
HelpRecord last updated May 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.