ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2842dup (p.Val948fs)

dbSNP: rs80359359
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Total submissions: 4
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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) RCV000113104 SCV000300568 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV002433599 SCV002751765 pathogenic Hereditary cancer-predisposing syndrome 2023-08-24 criteria provided, single submitter clinical testing The c.2842dupG pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a duplication of G at nucleotide position 2842, causing a translational frameshift with a predicted alternate stop codon (p.V948Gfs*11). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004998231 SCV005624370 pathogenic not provided 2023-12-21 criteria provided, single submitter clinical testing The BRCA2 c.2842dup (p.Val948Glyfs*11) variant alters the translational reading frame of the BRCA2 mRNA and causes the premature termination of BRCA2 protein synthesis. This variant has been reported in the published literature in an individual with contralateral invasive breast cancer (PMID: 36091166 (2022)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113104 SCV000146129 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2003-12-23 no assertion criteria provided clinical testing

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