ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1748del (p.Thr582_Leu583insTer) (rs397507605)

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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) RCV000257016 SCV000324019 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 RCV000257016 SCV000326600 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000478564 SCV000568455 pathogenic not provided 2016-04-01 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.1748delT at the cDNA level and p.Leu583Ter (L583X) at the protein level. The normal sequence, with the base that is deleted in braces, is ACTT[T]GAAA. The deletion creates a nonsense variant, which changes a Leucine to a premature stop codon, and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant. also published as 1974delT using alternate nomenclature, has been reported in at least one family with breast and/or ovarian cancer (Montagna 2002) and is considered pathogenic.

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