ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1037del (p.Asn346fs)

dbSNP: rs2137467012
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002267179 SCV005024096 pathogenic Hereditary cancer-predisposing syndrome 2023-10-02 criteria provided, single submitter clinical testing The c.1037delA pathogenic mutation, located in coding exon 9 of the BRCA2 gene, results from a deletion of one nucleotide at nucleotide position 1037, causing a translational frameshift with a predicted alternate stop codon (p.N346Tfs*3). 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.
Genomic Center, National Cancer Institute RCV002267179 SCV002549126 pathogenic Hereditary cancer-predisposing syndrome no assertion criteria provided case-control

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