ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1825_1829del (p.Asn609fs)

dbSNP: rs1555591170
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589182 SCV000698891 likely pathogenic Hereditary breast ovarian cancer syndrome 2016-06-20 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.1825_1829delAATAG (p.Asn609Alafs) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.1874_1877dupTAGT (p.Val627fs), c.1952dupA (p.Lys652fs), and c.1953_1956delGAAA (p.Lys653fs)). The variant of interest was not observed in controls (ExAC, 1000 Gs or ESP), nor has it been, to our knowledge, reported in affected individuals via publications and/or reputable databases/clinical laboratories. Therefore, due to the nature of this variant, it has been classified as Likely Pathogenic until additional information becomes available.

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