ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3893C>G (p.Ser1298Ter) (rs80357440)

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Total submissions: 2
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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) RCV000661138 SCV000783388 pathogenic Breast-ovarian cancer, familial 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000228438 SCV000289790 pathogenic Hereditary breast and ovarian cancer syndrome 2017-02-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1298 (p.Ser1298*). It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). A different variant (c.3893C>A, also known as 4012C>A in the literature) giving rise to the same protein effect observed here (p.Ser1298*) has been reported in an individual with ovarian cancer (PMID: 26541979, and an individual with a family history of breast and ovarian cancer (PMID: 11802209). For these reasons, this variant has been classified as Pathogenic.

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