ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6240dup (p.Glu2081fs) (rs80359570)

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Total submissions: 4
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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) RCV000113555 SCV000282421 pathogenic Breast-ovarian cancer, familial 2 2016-04-22 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 RCV000113555 SCV000327370 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000657229 SCV000778955 pathogenic not provided 2018-03-23 criteria provided, single submitter clinical testing This duplication of one nucleotide in BRCA2 is denoted c.6240dupA at the cDNA level and p.Glu2081ArgfsX4 (E2081RfsX4) at the protein level. The normal sequence, with the base that is duplicated in brackets, is TGTT[dupA]GAGG. The duplication causes a frameshift which changes a Glutamic Acid to an Arginine at codon 2081, and creates a premature stop codon at position 4 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.6240dupA, also published as 6468insA using alternate nomenclature, has been reported in association with breast and ovarian cancer (Beetstra 2006, Kwong 2016). We consider this variant to be pathogenic.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113555 SCV000146803 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing

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