ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2893del (p.Lys964_Met965insTer)

dbSNP: rs2137490962
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002267158 SCV002750847 pathogenic Hereditary cancer-predisposing syndrome 2020-06-25 criteria provided, single submitter clinical testing The c.2893delA pathogenic mutation (also known as p.M965*), located in coding exon 10 of the BRCA2 gene, results from a deletion of one nucleotide at nucleotide position 2893. This changes the amino acid from a methionine to a stop codon within coding exon 10. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003096056 SCV003207360 pathogenic Hereditary breast ovarian cancer syndrome 2023-03-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1696798). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Met965*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584).
Genomic Center, National Cancer Institute RCV002267158 SCV002549105 pathogenic Hereditary cancer-predisposing syndrome no assertion criteria provided case-control

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