ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2539del (p.Met847fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002433215 SCV002742450 pathogenic Hereditary cancer-predisposing syndrome 2019-09-18 criteria provided, single submitter clinical testing The c.2539delA variant, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2539, causing a translational frameshift with a predicted alternate stop codon (p.M847Wfs*46). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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