ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9588del (p.Asp3197fs) (rs876661285)

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Total submissions: 3
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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) RCV000661869 SCV000784195 pathogenic Breast-ovarian cancer, familial 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000217863 SCV000279988 likely pathogenic not provided 2016-03-16 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA2 is denoted c.9588delA at the cDNA level and p.Asp3197ThrfsX20 (D3197TfsX20) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 9816delA. The normal sequence, with the base that is deleted in braces, is CTAA[A]GACT. The deletion causes a frameshift which changes an Aspartic Acid to a Threonine at codon 3197, and creates a premature stop codon at position 20 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through protein truncation. Based on the currently available information, we consider this deletion to be a likely pathogenic variant.
Color RCV000580338 SCV000684075 pathogenic Hereditary cancer-predisposing syndrome 2016-08-13 criteria provided, single submitter clinical testing

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