ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7210_7216delinsTGTAG (p.Lys2404fs) (rs397507904)

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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) RCV000661781 SCV000784097 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 RCV000255333 SCV000322533 pathogenic not provided 2016-01-20 criteria provided, single submitter clinical testing This combined deletion and insertion is denoted BRCA2 c.7210_7216delAAAGTCTinsTGTAG at the cDNA level and p.Lys2404CysfsX7 (K2404CfsX7) at the protein level. The normal sequence, with the bases that are deleted in braces and inserted in brackets, is AACC[AAAGTCT][TGTAG]TTGT. The variant causes a frameshift, which changes a Lysine to a Cysteine at codon 2404, and creates a premature stop codon at position 7 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 either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.

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