ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4828dup (p.Val1610fs) (rs397507744)

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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 RCV000257629 SCV000327095 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) RCV000257629 SCV000324278 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 RCV000523602 SCV000617465 pathogenic not provided 2017-03-08 criteria provided, single submitter clinical testing This duplication of one nucleotide in BRCA2 is denoted c.4828dupG at the cDNA level and p.Val1610GlyfsX5 (V1610GfsX5) at the protein level. The normal sequence, with the base that is duplicated in brackets, is GACT[dupG]TGGT. The duplication causes a frameshift which changes a Valine to a Glycine at codon 1610, and creates a premature stop codon at position 5 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA2 c.4828dupG, also published as BRCA2 5056insG, has been observed in at least three individuals with either a personal or family history of breast and/or ovarian cancer (Al-Mulla 2009). We consider BRCA2 c.4828dupG to be pathogenic.

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