ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8238_8241del (p.Gly2748fs) (rs886040751)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000257695 SCV000327842 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000257695 SCV000324633 pathogenic Breast-ovarian cancer, familial 2 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000481081 SCV000570723 pathogenic not provided 2016-06-20 criteria provided, single submitter clinical testing This deletion of 4 nucleotides in BRCA2 is denoted c.8238_8241delAGTT at the cDNA level and p.Gly2748ArgfsX28 (G2748RfsX28) at the protein level. The normal sequence, with the bases that are deleted in braces, is TGAC[AGTT]GGTC. The deletion causes a frameshift which changes a Glycine to an Arginine at codon 2748, and creates a premature stop codon at position 28 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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