ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.456_457del (p.Ser153fs) (rs80357882)

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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) RCV000112711 SCV000299457 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 RCV000230542 SCV000289805 pathogenic Hereditary breast and ovarian cancer syndrome 2016-04-09 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 7 of the BRCA1 mRNA (c.456_457delCA), causing a frameshift at codon 153. This creates a premature translational stop signal (p.Ser153Cysfs*5) and is expected to result in an absent or disrupted protein product. Truncating variants in BRCA1 are known to be pathogenic. This particular truncation has been reported in an individual with breast cancer (PMID: 26187060). For these reasons, this variant has been classified as Pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112711 SCV000145587 pathogenic Breast-ovarian cancer, familial 1 2003-12-23 no assertion criteria provided clinical testing

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