ClinVar Miner

Submissions for variant NM_007298.3(BRCA1):c.787+437del (rs879255320)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000660928 SCV000783166 pathogenic Breast-ovarian cancer, familial 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneKor MSA RCV000239204 SCV000296791 pathogenic not specified 2016-07-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000471171 SCV000540944 pathogenic Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
GeneDx RCV000520798 SCV000618032 pathogenic not provided 2017-03-28 criteria provided, single submitter clinical testing This deletion of one nucleotide is denoted BRCA1 c.1224delA at the cDNA level and p.Val409Ter (V409X) at the protein level. The normal sequence, with the base that is deleted in brackets, is CCAA[delA]GTAG. The deletion creates a nonsense variant, which changes a Valine to a premature stop codon. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA1 c.1224delA, previously reported as BRCA1 1343delA, has been observed in families with breast cancer (Nakamura 2015, Kwong 2016). This variant is considered pathogenic.
Invitae RCV000793345 SCV000932693 pathogenic Hereditary breast and ovarian cancer syndrome 2018-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val409*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a family affected with hereditary breast and ovarian cancer (PMID: 24249303). This variant is also known as 1343delA in the literature. ClinVar contains an entry for this variant (Variation ID: 252436). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.

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