ClinVar Miner

Submissions for variant NM_007299.4(BRCA1):c.*39del (rs864622220)

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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) RCV000241235 SCV000300277 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 RCV000204265 SCV000259749 likely pathogenic Hereditary breast and ovarian cancer syndrome 2015-08-02 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 23 of the BRCA1 mRNA (c.5525delT), causing a frameshift at codon 1842. This creates a premature translational stop signal in the last exon of the BRCA1 mRNA (p.Val1842Glufs*13). This variant is not present in population databases and has not been published in the literature. While this sequence change is not anticipated to result in nonsense mediated decay, it is expected to result in a truncated BRCA1 protein and alteration or loss of 22 C-terminal amino acid residues. A different variant that gives rise to a similar protein change, p.Tyr1853*, has been observed in a family affected with breast cancer (PMID: 7894493). The p.Tyr1853* change has also been reported to disrupt BRCA1 transcriptional activity (PMID: 8942979, 10811118, 11256609, 17308087). For these reasons, this variant has been classified as Likely Pathogenic.

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