ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3132del (p.Asn1045fs)

dbSNP: rs879255316
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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) RCV000661319 SCV000783586 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneKor MSA RCV000238875 SCV000296770 pathogenic not provided 2020-01-01 criteria provided, single submitter clinical testing This sequence change deletes one base from exon 11 of the BRCA1 mRNA (c.3132delT ), causing a frameshift after codon 1045 and the creation of a premature translation stop signal 3 amino acid residues later, [p.(Asn1045Metfs)]. This is expected to result in an absent or disrupted protein product. Truncating variants in the BRCA1 gene are known to be pathogenic. The mutation database Clinvar contains entries for this variant (Variation ID:252432).

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