ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8247_8248del (p.Lys2750fs) (rs80359701)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162938 SCV000213425 pathogenic Hereditary cancer-predisposing syndrome 2015-03-11 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) RCV000077432 SCV000147309 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077432 SCV000327844 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) RCV000077432 SCV000282456 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 RCV000413191 SCV000490436 pathogenic not provided 2016-04-29 criteria provided, single submitter clinical testing This deletion of 2 nucleotides in BRCA2 is denoted c.8247_8248delGA at the cDNA level and p.Lys2750AspfsX13 (K2750DfsX13) at the protein level. The normal sequence, with the bases that are deleted in braces, is GTCA[GA]AGAT. The deletion causes a frameshift which changes a Lysine to an Aspartic Acid at codon 2750, and creates a premature stop codon at position 13 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.8247_8248delGA, also reported as 8475delGA using alternate nomenclature has been reported in association with hereditary breast and ovarian cancer (Marroni 2004, Lecarpentier 2012). We consider this variant to be pathogenic.
Invitae RCV000045461 SCV000073474 pathogenic Hereditary breast and ovarian cancer syndrome 2017-02-22 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 18 of the BRCA2 mRNA (c.8247_8248delGA), causing a frameshift at codon 2750. This creates a premature translational stop signal (p.Lys2750Aspfs*13) 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 two individuals with a personal and/or family history of breast/ovarian cancer (PMID: 15340362, 22762150). This variant is also known as 8475delGA in the literature. For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000077432 SCV000296618 pathogenic Breast-ovarian cancer, familial 2 2015-09-10 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000045461 SCV000587942 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000077432 SCV000109230 pathogenic Breast-ovarian cancer, familial 2 2011-03-30 no assertion criteria provided clinical testing

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