ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1055dup (p.Tyr352Ter) (rs886038060)

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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 RCV000241526 SCV000326489 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) RCV000241526 SCV000300384 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000485014 SCV000566668 pathogenic not provided 2015-05-18 criteria provided, single submitter clinical testing This duplication of one nucleotide is denoted BRCA2 c.1055dupA at the cDNA level and p.Tyr352Ter (Y352X) at the protein level. The normal sequence, with the base that is duplicated in braces, is AAAT[A]CTCA. The duplication creates a nonsense variant, which changes a Tyrosine to a premature stop codon. Although This variant, also known as c.1054_1055insA, 1283insA, and 1283dupA using alternate nomenclature, has not been previously reported to our knowledge, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay and is considered pathogenic.

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