ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2099_2102TATT[1] (p.Phe701fs) (rs80359324)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508584 SCV000602856 pathogenic not specified 2017-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000214908 SCV000273000 pathogenic Hereditary cancer-predisposing syndrome 2014-11-14 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113014 SCV000146005 pathogenic Breast-ovarian cancer, familial 2 1999-06-21 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113014 SCV000326656 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) RCV000113014 SCV000300493 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Integrated Genetics/Laboratory Corporation of America RCV000496930 SCV000694590 pathogenic Hereditary breast and ovarian cancer syndrome 2016-04-25 criteria provided, single submitter clinical testing Variant summary: The c.2103_2106delTATT variant is predicted to cause a frameshift, which alters the proteins amino acid sequence beginning at position 701 and leads to a premature termination codon 27 amino acids downstream. It is 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 (e.g. c.2564_2565delCA/p.T855fs). Mutation taster predicts damaging outcome for this variant. This variant is not found in 120680 control chromosomes. This variant has been reported in an Italian BrC family (Nedelcu_BRCA1&2_EJHG_2002). In addition, multiple reputable databases (BIC, ARUP) classified this variant as pathogenic. Taken together, this variant was classified as a Pathogenic.
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496930 SCV000587623 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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