ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) (rs28897689)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 38
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112230 SCV000244351 benign Breast-ovarian cancer, familial 1 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 = 0.00000000000204
Invitae RCV000048417 SCV000076430 benign Hereditary breast and ovarian cancer syndrome 2020-11-22 criteria provided, single submitter clinical testing
Counsyl RCV000112230 SCV000153993 likely benign Breast-ovarian cancer, familial 1 2014-01-02 criteria provided, single submitter literature only
GeneDx RCV000120280 SCV000167299 benign not specified 2014-10-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Michigan Medical Genetics Laboratories,University of Michigan RCV000112230 SCV000195925 benign Breast-ovarian cancer, familial 1 2014-11-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000120280 SCV000202265 benign not specified 2014-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162493 SCV000212875 benign Hereditary cancer-predisposing syndrome 2014-11-18 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.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000120280 SCV000219236 likely benign not specified 2017-02-07 criteria provided, single submitter clinical testing
Vantari Genetics RCV000162493 SCV000267004 benign Hereditary cancer-predisposing syndrome 2016-01-18 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000048417 SCV000267853 likely benign Hereditary breast and ovarian cancer syndrome 2016-04-25 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000034747 SCV000280661 likely benign not provided 2016-04-18 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000048417 SCV000494321 benign Hereditary breast and ovarian cancer syndrome 2014-02-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000120280 SCV000538435 likely benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 0.6% (430/66720) European chromosomes, 2 homozygotes; ClinVar: 8 labs classify as B/LB
Baylor Genetics RCV000462353 SCV000540986 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000120280 SCV000586896 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Department of Pathology and Molecular Medicine,Queen's University RCV000120280 SCV000588052 benign not specified 2017-04-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000120280 SCV000593660 benign not specified 2019-02-08 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001281849 SCV000602688 benign none provided 2020-08-25 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000112230 SCV000743398 benign Breast-ovarian cancer, familial 1 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000112230 SCV000744621 benign Breast-ovarian cancer, familial 1 2015-09-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000120280 SCV000806942 benign not specified 2017-02-20 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000120280 SCV000864299 likely benign not specified 2017-06-12 criteria provided, single submitter clinical testing BS1,BP1,BP6; This alteration has an allele frequency that is greater than expected for the associated disease, is a missense alteration in a gene for which primarily truncating variants are known to cause disease, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
Color Health, Inc RCV000162493 SCV000902551 benign Hereditary cancer-predisposing syndrome 2015-10-13 criteria provided, single submitter clinical testing
Mendelics RCV000112230 SCV001140539 benign Breast-ovarian cancer, familial 1 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000034747 SCV001151328 likely benign not provided 2018-12-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000112230 SCV001283852 uncertain significance Breast-ovarian cancer, familial 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170593 SCV001333181 benign Breast and/or ovarian cancer 2019-04-03 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000112230 SCV001429072 uncertain significance Breast-ovarian cancer, familial 1 2018-07-09 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034747 SCV000043161 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
ITMI RCV000120280 SCV000084432 not provided not specified 2013-09-19 no assertion provided reference population
Breast Cancer Information Core (BIC) (BRCA1) RCV000112230 SCV000144942 uncertain significance Breast-ovarian cancer, familial 1 1999-12-30 no assertion criteria provided clinical testing
Pathway Genomics RCV000112230 SCV000187723 benign Breast-ovarian cancer, familial 1 2014-07-24 no assertion criteria provided literature only
Sharing Clinical Reports Project (SCRP) RCV000112230 SCV000189341 benign Breast-ovarian cancer, familial 1 2011-03-09 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000120280 SCV000587368 benign not specified 2014-01-31 no assertion criteria provided research
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120280 SCV000591481 benign not specified no assertion criteria provided clinical testing The p.Arg1347Gly variant is not expected to have clinical significance because it has been reported 44 times (in heterozygozous or homozygous form) with co-occurrence in individuals with known deleterious mutation in the BRCA1 gene (Tavtigian_2006_16014699). This variant is also reported in dbSNP (rs28897689) with an average heterozygosity of 0.010+/-0.068. Pathogenic variants have been reported as co-occuring with this variant: BRCA1 (1) c.5077_5080delinsTTCATTCTGC (p.Asp1692_Ala1693insPheIle) (2) c.2617dup (p.Ser873PhefsX30) (3) c.IVS5+3A>G (c.212+3A>G) AND BRCA2 (c.1420delC (p.Glu475AsnfsX10)), increasing the likelihood the p.Arg1347 variant does not have clinical significance. Based on the above information this variant is considered benign.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000112230 SCV000733616 benign Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000034747 SCV000778742 likely benign not provided 2017-03-31 no assertion criteria provided clinical testing
True Health Diagnostics RCV000162493 SCV000787903 likely benign Hereditary cancer-predisposing syndrome 2017-07-17 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.