ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6450dup (p.Val2151fs) (rs80359594)

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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) RCV000113593 SCV000282425 pathogenic Breast-ovarian cancer, familial 2 2016-04-22 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000044960 SCV000072973 pathogenic Hereditary breast and ovarian cancer syndrome 2016-11-15 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 11 of the BRCA2 mRNA (c.6450dupA), causing a frameshift at codon 2151. This creates a premature translational stop signal (p.Val2151Serfs*25) 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 an individual affected with hereditary breast and/or ovarian cancer (PMID: 11873550). This variant is also known as 6678insA in the literature. ClinVar contains an entry for this variant (Variation ID: 52107). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000219921 SCV000278237 pathogenic Hereditary cancer-predisposing syndrome 2017-04-27 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)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113593 SCV000327435 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000044960 SCV000592051 pathogenic Hereditary breast and ovarian cancer syndrome 2016-03-23 criteria provided, single submitter clinical testing
Counsyl RCV000113593 SCV000677692 pathogenic Breast-ovarian cancer, familial 2 2016-12-21 criteria provided, single submitter clinical testing
Mendelics RCV000044960 SCV000838839 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Color RCV000219921 SCV000911869 pathogenic Hereditary cancer-predisposing syndrome 2018-06-18 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113593 SCV000146860 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing

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