ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3568C>T (p.Arg1190Trp)

gnomAD frequency: 0.00007  dbSNP: rs80358604
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Total submissions: 17
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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) RCV000113191 SCV000244438 benign Breast-ovarian cancer, familial, susceptibility to, 2 2015-08-10 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.0000000109
Invitae RCV001082600 SCV000072236 benign Hereditary breast ovarian cancer syndrome 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000586379 SCV000210592 likely benign not provided 2019-05-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17924331, 26243651, 21990134, 20127978, 24323938, 27124784, 24504028, 27495310, 28866612, 29349598, 25348012)
Ambry Genetics RCV000162698 SCV000213153 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV000162698 SCV000683567 likely benign Hereditary cancer-predisposing syndrome 2016-04-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000160220 SCV000694704 benign not specified 2020-09-21 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.3568C>T (p.Arg1190Trp) results in a non-conservative amino acid change in the encoded protein sequence. Three of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00011 in 251026 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in BRCA2 causing Hereditary Breast And Ovarian Cancer Syndrome (0.00011 vs 0.00075), allowing no conclusion about variant significance. c.3568C>T has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome. These reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. Eight clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (benign/likely benign n=7, VUS n=1). In addition, one expert panel classified this variant as benign. Based on the evidence outlined above, the variant was classified as benign.
Preventiongenetics, part of Exact Sciences RCV000586379 SCV000805695 uncertain significance not provided 2018-01-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000160220 SCV000889021 benign not specified 2019-07-24 criteria provided, single submitter clinical testing
Mendelics RCV000113191 SCV001139067 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000586379 SCV001148981 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing BRCA2: BP4
Genetic Services Laboratory, University of Chicago RCV000160220 SCV002071369 likely benign not specified 2021-02-26 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000162698 SCV002533808 likely benign Hereditary cancer-predisposing syndrome 2021-02-25 criteria provided, single submitter curation
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003149677 SCV003838152 likely benign Breast and/or ovarian cancer 2023-05-23 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000160220 SCV004027417 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113191 SCV000146257 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2002-05-29 no assertion criteria provided clinical testing
Department of Medical Genetics, University Hospital of North Norway RCV000113191 SCV000301446 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2016-05-01 no assertion criteria provided clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. RCV001082600 SCV002506602 likely benign Hereditary breast ovarian cancer syndrome 2022-01-20 no assertion criteria provided clinical testing

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