ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6446_6447del (p.Ile2149fs) (rs876660421)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222779 SCV000277831 pathogenic Hereditary cancer-predisposing syndrome 2015-08-11 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000661809 SCV000784131 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 RCV000657332 SCV000779064 pathogenic not provided 2017-05-29 criteria provided, single submitter clinical testing This deletion of two nucleotides is denoted BRCA2 c.6446_6447delTT at the cDNA level and p.Ile2149LysfsX26 (I2149KfsX26) at the protein level. The normal sequence, with the bases that are deleted in brackets, is TCTA[delTT]AAAG. The deletion causes a frameshift which changes an Isoleucine to a Lysine at codon 2149, and creates a premature stop codon at position 26 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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