ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2817del (p.Asp940fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003460231 SCV004215120 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2023-05-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004949105 SCV005547432 pathogenic Hereditary cancer-predisposing syndrome 2024-09-11 criteria provided, single submitter clinical testing The c.2817delT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2817, causing a translational frameshift with a predicted alternate stop codon (p.D940Ifs*60). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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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