ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3645_3647delinsTA (p.Phe1216fs) (rs1064793064)

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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) RCV000661634 SCV000783933 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 RCV000480422 SCV000564772 pathogenic not provided 2014-10-23 criteria provided, single submitter clinical testing This combined deletion and insertion is denoted BRCA2 c.3645_3647delGTTinsTA at the cDNA level and p.Phe1216IlefsX12 (F1216IfsX12) at the protein level. The normal sequence, with the bases that are deleted and inserted in brackets, is TGGG[delGTTinsTA]TAGG. The variant causes a frameshift, which changes a Phenylalanine to an Isoleucine at codon 1216, and creates a premature stop codon at position 12 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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