ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7563_7564CT[2] (p.Leu2523fs) (rs80359664)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563179 SCV000665942 pathogenic Hereditary cancer-predisposing syndrome 2016-06-17 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)
Breast Cancer Information Core (BIC) (BRCA2) RCV000031687 SCV000147126 pathogenic Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031687 SCV000327687 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000031687 SCV000744522 pathogenic Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000031687 SCV000733302 pathogenic Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031687 SCV000301178 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 RCV000507472 SCV000778884 pathogenic not provided 2017-09-12 criteria provided, single submitter clinical testing This deletion of two nucleotides in BRCA2 is denoted c.7567_7568delCT at the cDNA level and p.Leu2523GlufsX15 (L2523EfsX15) at the protein level. The normal sequence, with the bases that are deleted in brackets, is CTCT[delCT]GAAA. The deletion causes a frameshift which changes a Leucine to a Glutamic Acid at codon 2523, and creates a premature stop codon at position 15 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.7567_7568delCT, previously reported as 7795delCT, has been observed in individuals with breast and/or ovarian cancer (Gao 2000, van der Hout 2006). We consider this variant to be pathogenic.
Invitae RCV000045250 SCV000073263 pathogenic Hereditary breast and ovarian cancer syndrome 2016-11-15 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 15 of the BRCA2 mRNA (c.7567_7568delCT), causing a frameshift at codon 2523. This creates a premature translational stop signal (p.Leu2523Glufs*15) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic. This particular variant has been reported in the literature in individuals affected with breast and/or ovarian cancer (PMID: 11030417, 16683254). This variant is also known in the literature as 7795delCT. For these reasons, this variant has been classified as Pathogenic.
Michigan Medical Genetics Laboratories,University of Michigan RCV000031687 SCV000267808 pathogenic Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507472 SCV000600756 pathogenic not provided 2017-02-15 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000045250 SCV000587900 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000031687 SCV000054294 pathogenic Breast-ovarian cancer, familial 2 2012-01-12 no assertion criteria provided clinical testing

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