ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5641_5644del (p.Lys1881fs) (rs276174860)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000509599 SCV000607777 pathogenic Hereditary cancer-predisposing syndrome 2015-09-30 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113451 SCV000146652 pathogenic Breast-ovarian cancer, familial 2 2010-12-17 no assertion criteria provided clinical testing
Color RCV000509599 SCV000903718 pathogenic Hereditary cancer-predisposing syndrome 2017-04-04 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113451 SCV000327250 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) RCV000113451 SCV000282409 pathogenic Breast-ovarian cancer, familial 2 2016-04-22 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000235141 SCV000108627 pathogenic not provided 2015-09-17 criteria provided, single submitter clinical testing This deletion of 4 nucleotides in BRCA2 is denoted c.5641_5644delAAAT at the cDNA level and p.Lys1881GlnfsX27 (K1881QfsX27) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 c.5689_5782delAAAT. The normal sequence, with the bases that are deleted in braces, is GAAT[AAAT]CAAA. The deletion causes a frameshift, which changes a Lysine to a Glutamine at codon 1881, and creates a premature stop codon at position 27 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.5641_5644delAAAT has been observed in multiple families with Hereditary Breast and Ovarian Cancer (Machackova 2008, Tea 2014). we consider this variant to be pathogenic.

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