ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1804G>A (p.Gly602Arg) (rs80358466)

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Total submissions: 16
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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) RCV000077267 SCV000244426 benign Breast-ovarian cancer, familial 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 = 0.000000101
Invitae RCV001081276 SCV000071906 benign Hereditary breast and ovarian cancer syndrome 2020-11-26 criteria provided, single submitter clinical testing
GeneDx RCV001284557 SCV000210569 likely benign not provided 2021-05-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24323938, 20104584, 20383589, 21218378, 21990134, 28678401, 21232165, 18559594, 23034506, 17924331, 27300552, 32444794, 32123317)
Ambry Genetics RCV000162545 SCV000212949 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.
Counsyl RCV000077267 SCV000488588 benign Breast-ovarian cancer, familial 2 2016-05-03 criteria provided, single submitter clinical testing
Color Health, Inc RCV000162545 SCV000683452 likely benign Hereditary cancer-predisposing syndrome 2015-02-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000168552 SCV000694568 benign not specified 2019-12-23 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.1804G>A (p.Gly602Arg) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4.2e-05 in 239200 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in BRCA2 causing Hereditary Breast and Ovarian Cancer (4.2e-05 vs 0.00075), allowing no conclusion about variant significance. c.1804G>A has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer (Lee_2008, Soegaard_2008, Borg_2010, Balabas_2010, Stegel_2011). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. Co-occurrences with other pathogenic variant(s) have been reported (BRCA1 c.5263_5264insC, p.Ser1755?fs; BRCA1 c.2679_2682delGAAA, p.Lys893_Lys894?fs in the BIC database; BRCA2 c.7558C>T , p.Arg2520Ter in a patient tested at our laboratory), providing supporting evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Seven clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000077267 SCV000743266 likely benign Breast-ovarian cancer, familial 2 2017-07-28 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000077267 SCV000744418 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284557 SCV001470405 likely benign not provided 2019-12-17 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV001642663 SCV001854696 benign Breast-ovarian cancer, familial 2; Breast-ovarian cancer, familial 1; Hereditary breast and ovarian cancer syndrome 2020-01-20 criteria provided, single submitter curation
Sharing Clinical Reports Project (SCRP) RCV000077267 SCV000109064 benign Breast-ovarian cancer, familial 2 2010-01-15 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077267 SCV000145944 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000077267 SCV000733235 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology,Netherlands Cancer Institute RCV000168552 SCV001906033 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000168552 SCV001953400 benign not specified no assertion criteria provided clinical testing

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