ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4548del (p.Glu1518fs)

dbSNP: rs2072507154
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253260 SCV001428884 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2018-07-09 criteria provided, single submitter clinical testing
Department of Human Genetics, Hannover Medical School RCV001253260 SCV005088413 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2024-07-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004601426 SCV005097515 pathogenic Hereditary cancer-predisposing syndrome 2024-05-29 criteria provided, single submitter clinical testing The c.4548delC pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a deletion of one nucleotide at nucleotide position 4548, causing a translational frameshift with a predicted alternate stop codon (p.E1518Nfs*25). 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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