ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2845del (p.Tyr949fs) (rs397507644)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3DMed Clinical Laboratory Inc RCV000677820 SCV000803980 pathogenic Neoplasm of the breast 2018-05-21 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000257690 SCV000326777 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) RCV000257690 SCV000324112 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 RCV000479662 SCV000567030 pathogenic not provided 2015-06-23 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA2 is denoted c.2845delT at the cDNA level and p.Tyr949MetfsX11 (Y949MfsX11) at the protein level. The normal sequence, with the base that is deleted in braces, is GGTT[T]ATGT. The deletion causes a frameshift, which changes a Tyrosine to a Methionine at codon 949, and creates a premature stop codon at position 11 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.2845delT, previously reported as 3073delT, has been observed in at least one woman with a personal and family history of breast cancer (Li 1999). we consider this variant to be pathogenic.

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