ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2256del (p.Gln754fs)

dbSNP: rs876659318
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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) RCV000661797 SCV000784116 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000220476 SCV000275652 pathogenic Hereditary cancer-predisposing syndrome 2024-08-29 criteria provided, single submitter clinical testing The c.2256delC pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a deletion of one nucleotide at nucleotide position 2256, causing a translational frameshift with a predicted alternate stop codon (p.Q754Nfs*18). 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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