ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8792del (p.Asn2931fs)

dbSNP: rs2072898210
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196282 SCV001366859 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic.
Ambry Genetics RCV002375123 SCV002687274 pathogenic Hereditary cancer-predisposing syndrome 2020-06-24 criteria provided, single submitter clinical testing The c.8792delA pathogenic mutation, located in coding exon 21 of the BRCA2 gene, results from a deletion of one nucleotide at nucleotide position 8792, causing a translational frameshift with a predicted alternate stop codon (p.N2931Ifs*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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