A variant was detected in the BRCA1 gene (c.5530delC). This sequence change results in a premature translational stop signal in the BRCA1 gene (p.Leu1844Serfs*11). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 20 amino acids of the BRCA1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with breast and ovarian cancer (PMID: 29297111, 27082205, 3019930). ClinVar contains an entry for this variant (Variation ID: 1255953) with 1 submission. This variant affects the last 15 amino acids of the BRCT2 domain (residues 1646-1859) of BRCA1 which is important for its DNA repair activity (PMID: 11573086, 14576433, 15133503, 25652403). While this variant is expected to cause a structural change at the C-terminal end of the protein, functional studies have not been performed to test whether or not it affects protein function. 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.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5530del (p.Leu1844fs)
Germline
Classification
Help
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.
(1)
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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.
Pathogenic
1
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.5530del (p.Leu1844fs)
Variation ID: 2503103 Accession: VCV002503103.1
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43045740 (GRCh38) [ NCBI UCSC ] 17: 41197757 (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 Jun 4, 2023 Jun 3, 2023 May 5, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.5530del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Leu1844fs frameshift NM_001407571.1:c.5317delC NP_001394500.1:p.Leu1773Serfs frameshift NM_001407581.1:c.5596delC NP_001394510.1:p.Leu1866Serfs frameshift NM_001407582.1:c.5596delC NP_001394511.1:p.Leu1866Serfs frameshift NM_001407583.1:c.5593delC NP_001394512.1:p.Leu1865Serfs frameshift NM_001407585.1:c.5593delC NP_001394514.1:p.Leu1865Serfs frameshift NM_001407587.1:c.5593delC NP_001394516.1:p.Leu1865Serfs frameshift NM_001407590.1:c.5590delC NP_001394519.1:p.Leu1864Serfs frameshift NM_001407591.1:c.5590delC NP_001394520.1:p.Leu1864Serfs frameshift NM_001407593.1:c.5530delC NP_001394522.1:p.Leu1844Serfs frameshift NM_001407594.1:c.5530delC NP_001394523.1:p.Leu1844Serfs frameshift NM_001407596.1:c.5530delC NP_001394525.1:p.Leu1844Serfs frameshift NM_001407597.1:c.5530delC NP_001394526.1:p.Leu1844Serfs frameshift NM_001407598.1:c.5530delC NP_001394527.1:p.Leu1844Serfs frameshift NM_001407602.1:c.5530delC NP_001394531.1:p.Leu1844Serfs frameshift NM_001407603.1:c.5530delC NP_001394532.1:p.Leu1844Serfs frameshift NM_001407605.1:c.5530delC NP_001394534.1:p.Leu1844Serfs frameshift NM_001407610.1:c.5527delC NP_001394539.1:p.Leu1843Serfs frameshift NM_001407611.1:c.5527delC NP_001394540.1:p.Leu1843Serfs frameshift NM_001407612.1:c.5527delC NP_001394541.1:p.Leu1843Serfs frameshift NM_001407613.1:c.5527delC NP_001394542.1:p.Leu1843Serfs frameshift NM_001407614.1:c.5527delC NP_001394543.1:p.Leu1843Serfs frameshift NM_001407615.1:c.5527delC NP_001394544.1:p.Leu1843Serfs frameshift NM_001407616.1:c.5527delC NP_001394545.1:p.Leu1843Serfs frameshift NM_001407617.1:c.5527delC NP_001394546.1:p.Leu1843Serfs frameshift NM_001407618.1:c.5527delC NP_001394547.1:p.Leu1843Serfs frameshift NM_001407619.1:c.5527delC NP_001394548.1:p.Leu1843Serfs frameshift NM_001407620.1:c.5527delC NP_001394549.1:p.Leu1843Serfs frameshift NM_001407621.1:c.5527delC NP_001394550.1:p.Leu1843Serfs frameshift NM_001407622.1:c.5527delC NP_001394551.1:p.Leu1843Serfs frameshift NM_001407623.1:c.5527delC NP_001394552.1:p.Leu1843Serfs frameshift NM_001407624.1:c.5527delC NP_001394553.1:p.Leu1843Serfs frameshift NM_001407625.1:c.5527delC NP_001394554.1:p.Leu1843Serfs frameshift NM_001407626.1:c.5527delC NP_001394555.1:p.Leu1843Serfs frameshift NM_001407627.1:c.5524delC NP_001394556.1:p.Leu1842Serfs frameshift NM_001407628.1:c.5524delC NP_001394557.1:p.Leu1842Serfs frameshift NM_001407629.1:c.5524delC NP_001394558.1:p.Leu1842Serfs frameshift NM_001407630.1:c.5524delC NP_001394559.1:p.Leu1842Serfs frameshift NM_001407631.1:c.5524delC NP_001394560.1:p.Leu1842Serfs frameshift NM_001407632.1:c.5524delC NP_001394561.1:p.Leu1842Serfs frameshift NM_001407633.1:c.5524delC NP_001394562.1:p.Leu1842Serfs frameshift NM_001407634.1:c.5524delC NP_001394563.1:p.Leu1842Serfs frameshift NM_001407635.1:c.5524delC NP_001394564.1:p.Leu1842Serfs frameshift NM_001407636.1:c.5524delC NP_001394565.1:p.Leu1842Serfs frameshift NM_001407637.1:c.5524delC NP_001394566.1:p.Leu1842Serfs frameshift NM_001407638.1:c.5524delC NP_001394567.1:p.Leu1842Serfs frameshift NM_001407639.1:c.5524delC NP_001394568.1:p.Leu1842Serfs frameshift NM_001407640.1:c.5524delC NP_001394569.1:p.Leu1842Serfs frameshift NM_001407641.1:c.5524delC NP_001394570.1:p.Leu1842Serfs frameshift NM_001407642.1:c.5524delC NP_001394571.1:p.Leu1842Serfs frameshift NM_001407644.1:c.5521delC NP_001394573.1:p.Leu1841Serfs frameshift NM_001407645.1:c.5521delC NP_001394574.1:p.Leu1841Serfs frameshift NM_001407646.1:c.5518delC NP_001394575.1:p.Leu1840Serfs frameshift NM_001407647.1:c.5515delC NP_001394576.1:p.Leu1839Serfs frameshift NM_001407648.1:c.5473delC NP_001394577.1:p.Leu1825Serfs frameshift NM_001407649.1:c.5470delC NP_001394578.1:p.Leu1824Serfs frameshift NM_001407652.1:c.5452delC NP_001394581.1:p.Leu1818Serfs frameshift NM_001407653.1:c.5452delC NP_001394582.1:p.Leu1818Serfs frameshift NM_001407654.1:c.5452delC NP_001394583.1:p.Leu1818Serfs frameshift NM_001407655.1:c.5452delC NP_001394584.1:p.Leu1818Serfs frameshift NM_001407656.1:c.5449delC NP_001394585.1:p.Leu1817Serfs frameshift NM_001407657.1:c.5449delC NP_001394586.1:p.Leu1817Serfs frameshift NM_001407658.1:c.5449delC NP_001394587.1:p.Leu1817Serfs frameshift NM_001407659.1:c.5446delC NP_001394588.1:p.Leu1816Serfs frameshift NM_001407660.1:c.5446delC NP_001394589.1:p.Leu1816Serfs frameshift NM_001407661.1:c.5446delC NP_001394590.1:p.Leu1816Serfs frameshift NM_001407662.1:c.5446delC NP_001394591.1:p.Leu1816Serfs frameshift NM_001407663.1:c.5446delC NP_001394592.1:p.Leu1816Serfs frameshift NM_001407664.1:c.5407delC NP_001394593.1:p.Leu1803Serfs frameshift NM_001407665.1:c.5407delC NP_001394594.1:p.Leu1803Serfs frameshift NM_001407666.1:c.5407delC NP_001394595.1:p.Leu1803Serfs frameshift NM_001407667.1:c.5407delC NP_001394596.1:p.Leu1803Serfs frameshift NM_001407668.1:c.5407delC NP_001394597.1:p.Leu1803Serfs frameshift NM_001407669.1:c.5407delC NP_001394598.1:p.Leu1803Serfs frameshift NM_001407670.1:c.5404delC NP_001394599.1:p.Leu1802Serfs frameshift NM_001407671.1:c.5404delC NP_001394600.1:p.Leu1802Serfs frameshift NM_001407672.1:c.5404delC NP_001394601.1:p.Leu1802Serfs frameshift NM_001407673.1:c.5404delC NP_001394602.1:p.Leu1802Serfs frameshift NM_001407674.1:c.5404delC NP_001394603.1:p.Leu1802Serfs frameshift NM_001407675.1:c.5404delC NP_001394604.1:p.Leu1802Serfs frameshift NM_001407676.1:c.5404delC NP_001394605.1:p.Leu1802Serfs frameshift NM_001407677.1:c.5404delC NP_001394606.1:p.Leu1802Serfs frameshift NM_001407678.1:c.5404delC NP_001394607.1:p.Leu1802Serfs frameshift NM_001407679.1:c.5404delC NP_001394608.1:p.Leu1802Serfs frameshift NM_001407680.1:c.5404delC NP_001394609.1:p.Leu1802Serfs frameshift NM_001407681.1:c.5401delC NP_001394610.1:p.Leu1801Serfs frameshift NM_001407682.1:c.5401delC NP_001394611.1:p.Leu1801Serfs frameshift NM_001407683.1:c.5401delC NP_001394612.1:p.Leu1801Serfs frameshift NM_001407684.1:c.5401delC NP_001394613.1:p.Leu1801Serfs frameshift NM_001407685.1:c.5401delC NP_001394614.1:p.Leu1801Serfs frameshift NM_001407686.1:c.5401delC NP_001394615.1:p.Leu1801Serfs frameshift NM_001407687.1:c.5401delC NP_001394616.1:p.Leu1801Serfs frameshift NM_001407688.1:c.5401delC NP_001394617.1:p.Leu1801Serfs frameshift NM_001407689.1:c.5401delC NP_001394618.1:p.Leu1801Serfs frameshift NM_001407690.1:c.5398delC NP_001394619.1:p.Leu1800Serfs frameshift NM_001407691.1:c.5398delC NP_001394620.1:p.Leu1800Serfs frameshift NM_001407692.1:c.5389delC NP_001394621.1:p.Leu1797Serfs frameshift NM_001407694.1:c.5389delC NP_001394623.1:p.Leu1797Serfs frameshift NM_001407695.1:c.5389delC NP_001394624.1:p.Leu1797Serfs frameshift NM_001407696.1:c.5389delC NP_001394625.1:p.Leu1797Serfs frameshift NM_001407697.1:c.5389delC NP_001394626.1:p.Leu1797Serfs frameshift NM_001407698.1:c.5389delC NP_001394627.1:p.Leu1797Serfs frameshift NM_001407724.1:c.5389delC NP_001394653.1:p.Leu1797Serfs frameshift NM_001407725.1:c.5389delC NP_001394654.1:p.Leu1797Serfs frameshift NM_001407726.1:c.5389delC NP_001394655.1:p.Leu1797Serfs frameshift NM_001407727.1:c.5389delC NP_001394656.1:p.Leu1797Serfs frameshift NM_001407728.1:c.5389delC NP_001394657.1:p.Leu1797Serfs frameshift NM_001407729.1:c.5389delC NP_001394658.1:p.Leu1797Serfs frameshift NM_001407730.1:c.5389delC NP_001394659.1:p.Leu1797Serfs frameshift NM_001407731.1:c.5389delC NP_001394660.1:p.Leu1797Serfs frameshift NM_001407732.1:c.5386delC NP_001394661.1:p.Leu1796Serfs frameshift NM_001407733.1:c.5386delC NP_001394662.1:p.Leu1796Serfs frameshift NM_001407734.1:c.5386delC NP_001394663.1:p.Leu1796Serfs frameshift NM_001407735.1:c.5386delC NP_001394664.1:p.Leu1796Serfs frameshift NM_001407736.1:c.5386delC NP_001394665.1:p.Leu1796Serfs frameshift NM_001407737.1:c.5386delC NP_001394666.1:p.Leu1796Serfs frameshift NM_001407738.1:c.5386delC NP_001394667.1:p.Leu1796Serfs frameshift NM_001407739.1:c.5386delC NP_001394668.1:p.Leu1796Serfs frameshift NM_001407740.1:c.5386delC NP_001394669.1:p.Leu1796Serfs frameshift NM_001407741.1:c.5386delC NP_001394670.1:p.Leu1796Serfs frameshift NM_001407742.1:c.5386delC NP_001394671.1:p.Leu1796Serfs frameshift NM_001407743.1:c.5386delC NP_001394672.1:p.Leu1796Serfs frameshift NM_001407744.1:c.5386delC NP_001394673.1:p.Leu1796Serfs frameshift NM_001407745.1:c.5386delC NP_001394674.1:p.Leu1796Serfs frameshift NM_001407746.1:c.5386delC NP_001394675.1:p.Leu1796Serfs frameshift NM_001407747.1:c.5386delC NP_001394676.1:p.Leu1796Serfs frameshift NM_001407748.1:c.5386delC NP_001394677.1:p.Leu1796Serfs frameshift NM_001407749.1:c.5386delC NP_001394678.1:p.Leu1796Serfs frameshift NM_001407750.1:c.5386delC NP_001394679.1:p.Leu1796Serfs frameshift NM_001407751.1:c.5386delC NP_001394680.1:p.Leu1796Serfs frameshift NM_001407752.1:c.5386delC NP_001394681.1:p.Leu1796Serfs frameshift NM_001407838.1:c.5383delC NP_001394767.1:p.Leu1795Serfs frameshift NM_001407839.1:c.5383delC NP_001394768.1:p.Leu1795Serfs frameshift NM_001407841.1:c.5383delC NP_001394770.1:p.Leu1795Serfs frameshift NM_001407842.1:c.5383delC NP_001394771.1:p.Leu1795Serfs frameshift NM_001407843.1:c.5383delC NP_001394772.1:p.Leu1795Serfs frameshift NM_001407844.1:c.5383delC NP_001394773.1:p.Leu1795Serfs frameshift NM_001407845.1:c.5383delC NP_001394774.1:p.Leu1795Serfs frameshift NM_001407846.1:c.5383delC NP_001394775.1:p.Leu1795Serfs frameshift NM_001407847.1:c.5383delC NP_001394776.1:p.Leu1795Serfs frameshift NM_001407848.1:c.5383delC NP_001394777.1:p.Leu1795Serfs frameshift NM_001407849.1:c.5383delC NP_001394778.1:p.Leu1795Serfs frameshift NM_001407850.1:c.5383delC NP_001394779.1:p.Leu1795Serfs frameshift NM_001407851.1:c.5383delC NP_001394780.1:p.Leu1795Serfs frameshift NM_001407852.1:c.5383delC NP_001394781.1:p.Leu1795Serfs frameshift NM_001407853.1:c.5383delC NP_001394782.1:p.Leu1795Serfs frameshift NM_001407854.1:c.*44delC NM_001407858.1:c.*44delC NM_001407859.1:c.*44delC NM_001407860.1:c.*44delC NM_001407861.1:c.*44delC NM_001407862.1:c.5329delC NP_001394791.1:p.Leu1777Serfs frameshift NM_001407863.1:c.5326delC NP_001394792.1:p.Leu1776Serfs frameshift NM_001407874.1:c.5323delC NP_001394803.1:p.Leu1775Serfs frameshift NM_001407875.1:c.5323delC NP_001394804.1:p.Leu1775Serfs frameshift NM_001407879.1:c.5320delC NP_001394808.1:p.Leu1774Serfs frameshift NM_001407881.1:c.5320delC NP_001394810.1:p.Leu1774Serfs frameshift NM_001407882.1:c.5320delC NP_001394811.1:p.Leu1774Serfs frameshift NM_001407884.1:c.5320delC NP_001394813.1:p.Leu1774Serfs frameshift NM_001407885.1:c.5320delC NP_001394814.1:p.Leu1774Serfs frameshift NM_001407886.1:c.5320delC NP_001394815.1:p.Leu1774Serfs frameshift NM_001407887.1:c.5320delC NP_001394816.1:p.Leu1774Serfs frameshift NM_001407889.1:c.5320delC NP_001394818.1:p.Leu1774Serfs frameshift NM_001407894.1:c.5317delC NP_001394823.1:p.Leu1773Serfs frameshift NM_001407895.1:c.5317delC NP_001394824.1:p.Leu1773Serfs frameshift NM_001407896.1:c.5317delC NP_001394825.1:p.Leu1773Serfs frameshift NM_001407897.1:c.5317delC NP_001394826.1:p.Leu1773Serfs frameshift NM_001407898.1:c.5317delC NP_001394827.1:p.Leu1773Serfs frameshift NM_001407899.1:c.5317delC NP_001394828.1:p.Leu1773Serfs frameshift NM_001407900.1:c.5317delC NP_001394829.1:p.Leu1773Serfs frameshift NM_001407902.1:c.5317delC NP_001394831.1:p.Leu1773Serfs frameshift NM_001407904.1:c.5317delC NP_001394833.1:p.Leu1773Serfs frameshift NM_001407906.1:c.5317delC NP_001394835.1:p.Leu1773Serfs frameshift NM_001407907.1:c.5317delC NP_001394836.1:p.Leu1773Serfs frameshift NM_001407908.1:c.5317delC NP_001394837.1:p.Leu1773Serfs frameshift NM_001407909.1:c.5317delC NP_001394838.1:p.Leu1773Serfs frameshift NM_001407910.1:c.5317delC NP_001394839.1:p.Leu1773Serfs frameshift NM_001407915.1:c.5314delC NP_001394844.1:p.Leu1772Serfs frameshift NM_001407916.1:c.5314delC NP_001394845.1:p.Leu1772Serfs frameshift NM_001407917.1:c.5314delC NP_001394846.1:p.Leu1772Serfs frameshift NM_001407918.1:c.5314delC NP_001394847.1:p.Leu1772Serfs frameshift NM_001407919.1:c.5278delC NP_001394848.1:p.Leu1760Serfs frameshift NM_001407920.1:c.5266delC NP_001394849.1:p.Leu1756Serfs frameshift NM_001407921.1:c.5266delC NP_001394850.1:p.Leu1756Serfs frameshift NM_001407922.1:c.5266delC NP_001394851.1:p.Leu1756Serfs frameshift NM_001407923.1:c.5266delC NP_001394852.1:p.Leu1756Serfs frameshift NM_001407924.1:c.5266delC NP_001394853.1:p.Leu1756Serfs frameshift NM_001407925.1:c.5266delC NP_001394854.1:p.Leu1756Serfs frameshift NM_001407926.1:c.5266delC NP_001394855.1:p.Leu1756Serfs frameshift NM_001407927.1:c.5263delC NP_001394856.1:p.Leu1755Serfs frameshift NM_001407928.1:c.5263delC NP_001394857.1:p.Leu1755Serfs frameshift NM_001407929.1:c.5263delC NP_001394858.1:p.Leu1755Serfs frameshift NM_001407930.1:c.5263delC NP_001394859.1:p.Leu1755Serfs frameshift NM_001407931.1:c.5263delC NP_001394860.1:p.Leu1755Serfs frameshift NM_001407932.1:c.5263delC NP_001394861.1:p.Leu1755Serfs frameshift NM_001407933.1:c.5263delC NP_001394862.1:p.Leu1755Serfs frameshift NM_001407934.1:c.5260delC NP_001394863.1:p.Leu1754Serfs frameshift NM_001407935.1:c.5260delC NP_001394864.1:p.Leu1754Serfs frameshift NM_001407936.1:c.5260delC NP_001394865.1:p.Leu1754Serfs frameshift NM_001407937.1:c.*44delC NM_001407938.1:c.*44delC NM_001407939.1:c.*44delC NM_001407940.1:c.*44delC NM_001407941.1:c.*44delC NM_001407942.1:c.*44delC NM_001407943.1:c.*44delC NM_001407944.1:c.*44delC NM_001407945.1:c.*44delC NM_001407946.1:c.5197delC NP_001394875.1:p.Leu1733Serfs frameshift NM_001407947.1:c.5197delC NP_001394876.1:p.Leu1733Serfs frameshift NM_001407948.1:c.5197delC NP_001394877.1:p.Leu1733Serfs frameshift NM_001407949.1:c.5197delC NP_001394878.1:p.Leu1733Serfs frameshift NM_001407950.1:c.5194delC NP_001394879.1:p.Leu1732Serfs frameshift NM_001407951.1:c.5194delC NP_001394880.1:p.Leu1732Serfs frameshift NM_001407952.1:c.5194delC NP_001394881.1:p.Leu1732Serfs frameshift NM_001407953.1:c.5194delC NP_001394882.1:p.Leu1732Serfs frameshift NM_001407954.1:c.5194delC NP_001394883.1:p.Leu1732Serfs frameshift NM_001407955.1:c.5194delC NP_001394884.1:p.Leu1732Serfs frameshift NM_001407956.1:c.5191delC NP_001394885.1:p.Leu1731Serfs frameshift NM_001407957.1:c.5191delC NP_001394886.1:p.Leu1731Serfs frameshift NM_001407958.1:c.5191delC NP_001394887.1:p.Leu1731Serfs frameshift NM_001407959.1:c.5149delC NP_001394888.1:p.Leu1717Serfs frameshift NM_001407960.1:c.5146delC NP_001394889.1:p.Leu1716Serfs frameshift NM_001407962.1:c.5146delC NP_001394891.1:p.Leu1716Serfs frameshift NM_001407963.1:c.5143delC NP_001394892.1:p.Leu1715Serfs frameshift NM_001407964.1:c.5068delC NP_001394893.1:p.Leu1690Serfs frameshift NM_001407965.1:c.5023delC NP_001394894.1:p.Leu1675Serfs frameshift NM_001407966.1:c.4642delC NP_001394895.1:p.Leu1548Serfs frameshift NM_001407967.1:c.4639delC NP_001394896.1:p.Leu1547Serfs frameshift NM_001407968.1:c.2926delC NP_001394897.1:p.Leu976Serfs frameshift NM_001407969.1:c.2923delC NP_001394898.1:p.Leu975Serfs frameshift NM_001407970.1:c.2287delC NP_001394899.1:p.Leu763Serfs frameshift NM_001407971.1:c.2287delC NP_001394900.1:p.Leu763Serfs frameshift NM_001407972.1:c.2284delC NP_001394901.1:p.Leu762Serfs frameshift NM_001407973.1:c.2221delC NP_001394902.1:p.Leu741Serfs frameshift NM_001407974.1:c.2221delC NP_001394903.1:p.Leu741Serfs frameshift NM_001407975.1:c.2221delC NP_001394904.1:p.Leu741Serfs frameshift NM_001407976.1:c.2221delC NP_001394905.1:p.Leu741Serfs frameshift NM_001407977.1:c.2221delC NP_001394906.1:p.Leu741Serfs frameshift NM_001407978.1:c.2221delC NP_001394907.1:p.Leu741Serfs frameshift NM_001407979.1:c.2218delC NP_001394908.1:p.Leu740Serfs frameshift NM_001407980.1:c.2218delC NP_001394909.1:p.Leu740Serfs frameshift NM_001407981.1:c.2218delC NP_001394910.1:p.Leu740Serfs frameshift NM_001407982.1:c.2218delC NP_001394911.1:p.Leu740Serfs frameshift NM_001407983.1:c.2218delC NP_001394912.1:p.Leu740Serfs frameshift NM_001407984.1:c.2218delC NP_001394913.1:p.Leu740Serfs frameshift NM_001407985.1:c.2218delC NP_001394914.1:p.Leu740Serfs frameshift NM_001407986.1:c.2218delC NP_001394915.1:p.Leu740Serfs frameshift NM_001407990.1:c.2218delC NP_001394919.1:p.Leu740Serfs frameshift NM_001407991.1:c.2218delC NP_001394920.1:p.Leu740Serfs frameshift NM_001407992.1:c.2218delC NP_001394921.1:p.Leu740Serfs frameshift NM_001407993.1:c.2218delC NP_001394922.1:p.Leu740Serfs frameshift NM_001408392.1:c.2215delC NP_001395321.1:p.Leu739Serfs frameshift NM_001408396.1:c.2215delC NP_001395325.1:p.Leu739Serfs frameshift NM_001408397.1:c.2215delC NP_001395326.1:p.Leu739Serfs frameshift NM_001408398.1:c.2215delC NP_001395327.1:p.Leu739Serfs frameshift NM_001408399.1:c.2215delC NP_001395328.1:p.Leu739Serfs frameshift NM_001408400.1:c.2215delC NP_001395329.1:p.Leu739Serfs frameshift NM_001408401.1:c.2215delC NP_001395330.1:p.Leu739Serfs frameshift NM_001408402.1:c.2215delC NP_001395331.1:p.Leu739Serfs frameshift NM_001408403.1:c.2215delC NP_001395332.1:p.Leu739Serfs frameshift NM_001408404.1:c.2215delC NP_001395333.1:p.Leu739Serfs frameshift NM_001408406.1:c.2212delC NP_001395335.1:p.Leu738Serfs frameshift NM_001408407.1:c.2212delC NP_001395336.1:p.Leu738Serfs frameshift NM_001408408.1:c.2212delC NP_001395337.1:p.Leu738Serfs frameshift NM_001408409.1:c.2209delC NP_001395338.1:p.Leu737Serfs frameshift NM_001408410.1:c.2146delC NP_001395339.1:p.Leu716Serfs frameshift NM_001408411.1:c.2143delC NP_001395340.1:p.Leu715Serfs frameshift NM_001408412.1:c.2140delC NP_001395341.1:p.Leu714Serfs frameshift NM_001408413.1:c.2140delC NP_001395342.1:p.Leu714Serfs frameshift NM_001408414.1:c.2140delC NP_001395343.1:p.Leu714Serfs frameshift NM_001408415.1:c.2140delC NP_001395344.1:p.Leu714Serfs frameshift NM_001408416.1:c.2140delC NP_001395345.1:p.Leu714Serfs frameshift NM_001408418.1:c.2104delC NP_001395347.1:p.Leu702Serfs frameshift NM_001408419.1:c.2104delC NP_001395348.1:p.Leu702Serfs frameshift NM_001408420.1:c.2104delC NP_001395349.1:p.Leu702Serfs frameshift NM_001408421.1:c.2101delC NP_001395350.1:p.Leu701Serfs frameshift NM_001408422.1:c.2101delC NP_001395351.1:p.Leu701Serfs frameshift NM_001408423.1:c.2101delC NP_001395352.1:p.Leu701Serfs frameshift NM_001408424.1:c.2101delC NP_001395353.1:p.Leu701Serfs frameshift NM_001408425.1:c.2098delC NP_001395354.1:p.Leu700Serfs frameshift NM_001408426.1:c.2098delC NP_001395355.1:p.Leu700Serfs frameshift NM_001408427.1:c.2098delC NP_001395356.1:p.Leu700Serfs frameshift NM_001408428.1:c.2098delC NP_001395357.1:p.Leu700Serfs frameshift NM_001408429.1:c.2098delC NP_001395358.1:p.Leu700Serfs frameshift NM_001408430.1:c.2098delC NP_001395359.1:p.Leu700Serfs frameshift NM_001408431.1:c.2098delC NP_001395360.1:p.Leu700Serfs frameshift NM_001408432.1:c.2095delC NP_001395361.1:p.Leu699Serfs frameshift NM_001408433.1:c.2095delC NP_001395362.1:p.Leu699Serfs frameshift NM_001408434.1:c.2095delC NP_001395363.1:p.Leu699Serfs frameshift NM_001408435.1:c.2095delC NP_001395364.1:p.Leu699Serfs frameshift NM_001408436.1:c.2095delC NP_001395365.1:p.Leu699Serfs frameshift NM_001408437.1:c.2095delC NP_001395366.1:p.Leu699Serfs frameshift NM_001408438.1:c.2095delC NP_001395367.1:p.Leu699Serfs frameshift NM_001408439.1:c.2095delC NP_001395368.1:p.Leu699Serfs frameshift NM_001408440.1:c.2095delC NP_001395369.1:p.Leu699Serfs frameshift NM_001408441.1:c.2095delC NP_001395370.1:p.Leu699Serfs frameshift NM_001408442.1:c.2095delC NP_001395371.1:p.Leu699Serfs frameshift NM_001408443.1:c.2095delC NP_001395372.1:p.Leu699Serfs frameshift NM_001408444.1:c.2095delC NP_001395373.1:p.Leu699Serfs frameshift NM_001408445.1:c.2092delC NP_001395374.1:p.Leu698Serfs frameshift NM_001408446.1:c.2092delC NP_001395375.1:p.Leu698Serfs frameshift NM_001408447.1:c.2092delC NP_001395376.1:p.Leu698Serfs frameshift NM_001408448.1:c.2092delC NP_001395377.1:p.Leu698Serfs frameshift NM_001408450.1:c.2092delC NP_001395379.1:p.Leu698Serfs frameshift NM_001408451.1:c.2086delC NP_001395380.1:p.Leu696Serfs frameshift NM_001408452.1:c.2080delC NP_001395381.1:p.Leu694Serfs frameshift NM_001408453.1:c.2080delC NP_001395382.1:p.Leu694Serfs frameshift NM_001408454.1:c.2080delC NP_001395383.1:p.Leu694Serfs frameshift NM_001408455.1:c.2080delC NP_001395384.1:p.Leu694Serfs frameshift NM_001408456.1:c.2080delC NP_001395385.1:p.Leu694Serfs frameshift NM_001408457.1:c.2080delC NP_001395386.1:p.Leu694Serfs frameshift NM_001408458.1:c.2077delC NP_001395387.1:p.Leu693Serfs frameshift NM_001408459.1:c.2077delC NP_001395388.1:p.Leu693Serfs frameshift NM_001408460.1:c.2077delC NP_001395389.1:p.Leu693Serfs frameshift NM_001408461.1:c.2077delC NP_001395390.1:p.Leu693Serfs frameshift NM_001408462.1:c.2077delC NP_001395391.1:p.Leu693Serfs frameshift NM_001408463.1:c.2077delC NP_001395392.1:p.Leu693Serfs frameshift NM_001408464.1:c.2077delC NP_001395393.1:p.Leu693Serfs frameshift NM_001408465.1:c.2077delC NP_001395394.1:p.Leu693Serfs frameshift NM_001408466.1:c.2077delC NP_001395395.1:p.Leu693Serfs frameshift NM_001408467.1:c.2077delC NP_001395396.1:p.Leu693Serfs frameshift NM_001408468.1:c.2074delC NP_001395397.1:p.Leu692Serfs frameshift NM_001408469.1:c.2074delC NP_001395398.1:p.Leu692Serfs frameshift NM_001408470.1:c.2074delC NP_001395399.1:p.Leu692Serfs frameshift NM_001408472.1:c.*44delC NM_001408473.1:c.*44delC NM_001408474.1:c.2020delC NP_001395403.1:p.Leu674Serfs frameshift NM_001408475.1:c.2017delC NP_001395404.1:p.Leu673Serfs frameshift NM_001408476.1:c.2017delC NP_001395405.1:p.Leu673Serfs frameshift NM_001408478.1:c.2011delC NP_001395407.1:p.Leu671Serfs frameshift NM_001408479.1:c.2011delC NP_001395408.1:p.Leu671Serfs frameshift NM_001408480.1:c.2011delC NP_001395409.1:p.Leu671Serfs frameshift NM_001408481.1:c.2008delC NP_001395410.1:p.Leu670Serfs frameshift NM_001408482.1:c.2008delC NP_001395411.1:p.Leu670Serfs frameshift NM_001408483.1:c.2008delC NP_001395412.1:p.Leu670Serfs frameshift NM_001408484.1:c.2008delC NP_001395413.1:p.Leu670Serfs frameshift NM_001408485.1:c.2008delC NP_001395414.1:p.Leu670Serfs frameshift NM_001408489.1:c.2008delC NP_001395418.1:p.Leu670Serfs frameshift NM_001408490.1:c.2008delC NP_001395419.1:p.Leu670Serfs frameshift NM_001408491.1:c.2008delC NP_001395420.1:p.Leu670Serfs frameshift NM_001408492.1:c.2005delC NP_001395421.1:p.Leu669Serfs frameshift NM_001408493.1:c.2005delC NP_001395422.1:p.Leu669Serfs frameshift NM_001408494.1:c.1981delC NP_001395423.1:p.Leu661Serfs frameshift NM_001408495.1:c.1975delC NP_001395424.1:p.Leu659Serfs frameshift NM_001408496.1:c.1957delC NP_001395425.1:p.Leu653Serfs frameshift NM_001408497.1:c.1957delC NP_001395426.1:p.Leu653Serfs frameshift NM_001408498.1:c.1957delC NP_001395427.1:p.Leu653Serfs frameshift NM_001408499.1:c.1957delC NP_001395428.1:p.Leu653Serfs frameshift NM_001408500.1:c.1957delC NP_001395429.1:p.Leu653Serfs frameshift NM_001408501.1:c.1957delC NP_001395430.1:p.Leu653Serfs frameshift NM_001408502.1:c.1954delC NP_001395431.1:p.Leu652Serfs frameshift NM_001408503.1:c.1954delC NP_001395432.1:p.Leu652Serfs frameshift NM_001408504.1:c.1954delC NP_001395433.1:p.Leu652Serfs frameshift NM_001408505.1:c.1951delC NP_001395434.1:p.Leu651Serfs frameshift NM_001408506.1:c.1894delC NP_001395435.1:p.Leu632Serfs frameshift NM_001408507.1:c.1891delC NP_001395436.1:p.Leu631Serfs frameshift NM_001408508.1:c.1882delC NP_001395437.1:p.Leu628Serfs frameshift NM_001408509.1:c.1879delC NP_001395438.1:p.Leu627Serfs frameshift NM_001408510.1:c.1840delC NP_001395439.1:p.Leu614Serfs frameshift NM_001408511.1:c.1837delC NP_001395440.1:p.Leu613Serfs frameshift NM_001408512.1:c.1717delC NP_001395441.1:p.Leu573Serfs frameshift NM_001408513.1:c.1690delC NP_001395442.1:p.Leu564Serfs frameshift NM_001408514.1:c.1294delC NP_001395443.1:p.Leu432Serfs frameshift NM_007297.4:c.5389del NP_009228.2:p.Leu1797fs frameshift NM_007298.4:c.2218delC NP_009229.2:p.Leu740Serfs frameshift NM_007299.4:c.*44del 3 prime UTR NM_007300.4:c.5593del NP_009231.2:p.Leu1865fs frameshift NM_007304.2:c.2218delC NP_009235.2:p.Leu740Serfs frameshift NR_027676.2:n.5707del non-coding transcript variant NC_000017.11:g.43045740del NC_000017.10:g.41197757del NG_005905.2:g.172244del LRG_292:g.172244del LRG_292t1:c.5530del LRG_292p1:p.Leu1844Serfs - Protein change
- L1797fs, L1844fs, L1865fs, L740fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43045739: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.
- -
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13044 | 14850 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Pathogenic (1) |
no assertion criteria provided
|
May 5, 2023 | RCV003229788.1 |
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. |
|
|---|---|---|---|---|---|
|
Pathogenic
(May 05, 2023)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
Accession: SCV003927206.1
First in ClinVar: Jun 03, 2023 Last updated: Jun 03, 2023 |
Comment:
A variant was detected in the BRCA1 gene (c.5530delC). This sequence change results in a premature translational stop signal in the BRCA1 gene (p.Leu1844Serfs*11). While … (more)
A variant was detected in the BRCA1 gene (c.5530delC). This sequence change results in a premature translational stop signal in the BRCA1 gene (p.Leu1844Serfs*11). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 20 amino acids of the BRCA1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with breast and ovarian cancer (PMID: 29297111, 27082205, 3019930). ClinVar contains an entry for this variant (Variation ID: 1255953) with 1 submission. This variant affects the last 15 amino acids of the BRCT2 domain (residues 1646-1859) of BRCA1 which is important for its DNA repair activity (PMID: 11573086, 14576433, 15133503, 25652403). While this variant is expected to cause a structural change at the C-terminal end of the protein, functional studies have not been performed to test whether or not it affects protein function. 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. (less)
Sex: female
|
Comment:
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. |
Comment:
A variant was detected in the BRCA1 gene (c.5530delC). This sequence change results in a premature translational stop signal in the BRCA1 gene (p.Leu1844Serfs*11). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 20 amino acids of the BRCA1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with breast and ovarian cancer (PMID: 29297111, 27082205, 3019930). ClinVar contains an entry for this variant (Variation ID: 1255953) with 1 submission. This variant affects the last 15 amino acids of the BRCT2 domain (residues 1646-1859) of BRCA1 which is important for its DNA repair activity (PMID: 11573086, 14576433, 15133503, 25652403). While this variant is expected to cause a structural change at the C-terminal end of the protein, functional studies have not been performed to test whether or not it affects protein function. 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.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
Text-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.