ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3411dup (p.Gln1138fs)

dbSNP: rs587781850
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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) RCV000240970 SCV000300631 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 RCV000130156 SCV000184991 pathogenic Hereditary cancer-predisposing syndrome 2017-03-31 criteria provided, single submitter clinical testing The c.3411dupG pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a duplication of one nucleotide at position 3411, causing a translational frameshift with a predicted alternate stop codon (p.Q1138Afs*6). 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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