ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4691dup (p.Thr1566fs) (rs786204209)

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Total submissions: 6
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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) RCV000241371 SCV000300779 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000168306 SCV000218989 pathogenic Hereditary breast and ovarian cancer syndrome 2017-11-28 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 11, causing a frameshift at codon 1566. This creates a premature translational stop signal (p.Thr1566Aspfs*9) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic. This variant has been reported in the literature in individuals affected with pancreatic cancer and prostate cancer (PMID: 26546047, 27433846). For these reasons, this sequence change has been classified as Pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000241371 SCV000327069 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000168306 SCV000591922 pathogenic Hereditary breast and ovarian cancer syndrome 2013-05-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000509735 SCV000608247 pathogenic Hereditary cancer-predisposing syndrome 2016-05-26 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)
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735556 SCV000863694 pathogenic Breast and/or ovarian cancer 2014-07-11 no assertion criteria provided clinical testing

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