ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6447_6448dup (p.Lys2150fs) (rs397507858)

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Total submissions: 5
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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) RCV000238618 SCV000301048 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000165176 SCV000215888 pathogenic Hereditary cancer-predisposing syndrome 2014-07-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000238618 SCV000296637 pathogenic Breast-ovarian cancer, familial 2 2015-08-06 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000238618 SCV000327432 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000478202 SCV000567459 pathogenic not provided 2015-07-28 criteria provided, single submitter clinical testing This duplication of 2 nucleotides in BRCA2 is denoted c.6447_6448dupTA at the cDNA level and p.Lys2150IlefsX19 (K2150IfsX19) at the protein level. This duplication is also known as BRCA2 6675_6676dupTA or 6676insTA using alternate nomenclature. The normal sequence, with the bases that are duplicated in braces, is CTAT[TA]AAGT. The duplication causes a frameshift, which changes a Lysine to an Isoleucine at codon 2150, and creates a premature stop codon at position 19 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.6447_6448dupTA has been identified in several individuals with a personal/family history of early-onset breast cancer, male breast cancer, and/or ovarian cancer (Meindl 2002, van der Merwe 2012, Pilato 2014). we consider this variant to be pathogenic.

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