ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3570del (p.Lys1191fs) (rs80359390)

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Total submissions: 5
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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) RCV000113192 SCV000300644 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113192 SCV000326883 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507452 SCV000600556 pathogenic not provided 2017-06-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587386 SCV000694699 pathogenic Hereditary breast and ovarian cancer syndrome 2016-03-31 criteria provided, single submitter clinical testing Variant Summary: The c.3570delG variant results in a premature termination codon, predicted to cause a truncated or absent BRCA2 protein, which is a commonly known mechanism for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (c.3599_3600delGT, c.3641dupT, c.3680_3681delTG). The variant is absent from the large, broad ExAC control population. The variant has been reported in an affected individual in the literature and a reputable clinical lab and database have classified the variant as pathogenic. Therefore, this variant has been classified as a Pathogenic.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113192 SCV000146259 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing

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