ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1696del (p.Thr566fs)

dbSNP: rs1555282016
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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) RCV000661705 SCV000784009 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000510127 SCV000608186 pathogenic Hereditary cancer-predisposing syndrome 2016-07-20 criteria provided, single submitter clinical testing The c.1696delA pathogenic mutation, located in coding exon 9 of the BRCA2 gene, results from a deletion of one nucleotide at nucleotide position 1696, causing a translational frameshift with a predicted alternate stop codon (p.T566Pfs*7). 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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