ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7744del (p.Ala2582fs) (rs886040727)

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Total submissions: 3
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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) RCV000256496 SCV000324585 pathogenic Breast-ovarian cancer, familial 2 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000256496 SCV000327723 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000657272 SCV000779003 pathogenic not provided 2017-03-03 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA2 is denoted c.7744delG at the cDNA level and p.Ala2582LeufsX66 (A2582LfsX66) at the protein level. The normal sequence, with the base that is deleted in brackets, is GTTG[delG]CTGA. The deletion causes a frameshift which changes an Alanine to a Leucine at codon 2582, and creates a premature stop codon at position 66 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.7744delG, also published as BRCA2 7972delG using alternate nomenclature, has been reported in individuals with breast cancer (Kang 2015). We consider this variant to be pathogenic.

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