ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6816_6820del (p.Gly2274fs) (rs587781803)

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Total submissions: 9
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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) RCV000210971 SCV000301111 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 RCV000130069 SCV000184896 pathogenic Hereditary cancer-predisposing syndrome 2017-04-12 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)
University of Washington Department of Laboratory Medicine,University of Washington RCV000210139 SCV000266044 pathogenic Breast-ovarian cancer, familial 1 2015-11-20 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000210971 SCV000267799 pathogenic Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000210971 SCV000327524 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV000559470 SCV000635533 pathogenic Hereditary breast and ovarian cancer syndrome 2019-01-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly2274Alafs*17) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with ovarian cancer (PMID: 26845104). ClinVar contains an entry for this variant (Variation ID: 141509). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000657259 SCV000778989 pathogenic not provided 2017-10-11 criteria provided, single submitter clinical testing This deletion of five nucleotides in BRCA2 is denoted c.6816_6820delAAGAG at the cDNA level and p.Gly2274AlafsX17 (G2274AfsX17) at the protein level. The normal sequence, with the bases that are deleted in brackets, is AAAG[delAAGAG]GAGA. The deletion causes a frameshift which changes a Glycine to an Alanine at codon 2274, and creates a premature stop codon at position 17 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.6816_6820delAAGAG has been reported in at least one individual with ovarian cancer (Shirts 2016). We consider this variant to be pathogenic.
Counsyl RCV000210971 SCV000785288 likely pathogenic Breast-ovarian cancer, familial 2 2017-06-29 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000657259 SCV000805751 pathogenic not provided 2017-08-17 criteria provided, single submitter clinical testing

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