ClinVar Miner

Submissions for variant NM_007298.3(BRCA1):c.788-1205del (rs876658626)

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Total submissions: 3
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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) RCV000661100 SCV000783347 pathogenic Breast-ovarian cancer, familial 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000216850 SCV000274134 pathogenic Hereditary cancer-predisposing syndrome 2015-02-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000799319 SCV000938976 pathogenic Hereditary breast and ovarian cancer syndrome 2018-08-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro1099Leufs*10) 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 individuals affected with breast cancer (PMID: 28724667, 24961674). ClinVar contains an entry for this variant (Variation ID: 230548). A different variant (c.3296delC, also known as c.3415delC in the literature) giving rise to the same protein effect observed here (p.Pro1099Leufs*10) has been reported in an individual affected with breast and/or ovarian cancer (PMID: 10498392, 29020732, 22798144), indicating that this residue may be critical for protein function. 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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