ClinVar Miner

Submissions for variant NM_007298.3(BRCA1):c.788-1755_788-1754del (rs80357540)

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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) RCV000167766 SCV000299826 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000047955 SCV000075968 pathogenic Hereditary breast and ovarian cancer syndrome 2017-10-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser915*) 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 particular variant has been reported in the literature in a family affected with breast and ovarian cancer (PMID: 7894493). This variant is also known as 2862delTC in the literature. ClinVar contains an entry for this variant (Variation ID: 54668). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000132272 SCV000187355 pathogenic Hereditary cancer-predisposing syndrome 2014-03-21 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)
OMIM RCV000167766 SCV000039525 pathogenic Breast-ovarian cancer, familial 1 1994-12-01 no assertion criteria provided literature only
Breast Cancer Information Core (BIC) (BRCA1) RCV000167766 SCV000144533 pathogenic Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing

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