ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) (rs1799950)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 32
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) RCV000111539 SCV000244293 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. Also class 1 based on frequency >1% in an outbred sampleset. Frequency 0.05409 (European), derived from 1000 genomes (2012-04-30).
Invitae RCV000047326 SCV000075339 benign Hereditary breast and ovarian cancer syndrome 2020-12-08 criteria provided, single submitter clinical testing
Counsyl RCV000111539 SCV000153997 benign Breast-ovarian cancer, familial 1 2014-01-02 criteria provided, single submitter literature only High frequency in a 1kG or ESP population: 6.4 %.
GeneDx RCV000120281 SCV000167238 benign not specified 2013-08-13 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.
Ambry Genetics RCV000132455 SCV000187549 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.
Michigan Medical Genetics Laboratories,University of Michigan RCV000111539 SCV000195889 benign Breast-ovarian cancer, familial 1 2014-11-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000120281 SCV000202273 benign not specified 2016-02-15 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000047326 SCV000258058 benign Hereditary breast and ovarian cancer syndrome 2015-04-17 criteria provided, single submitter clinical testing
Vantari Genetics RCV000132455 SCV000267011 benign Hereditary cancer-predisposing syndrome 2015-11-27 criteria provided, single submitter clinical testing
Color Health, Inc RCV000132455 SCV000292096 benign Hereditary cancer-predisposing syndrome 2014-11-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000120281 SCV000311784 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000111539 SCV000403072 benign Breast-ovarian cancer, familial 1 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000047326 SCV000494299 benign Hereditary breast and ovarian cancer syndrome 2014-01-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV000462965 SCV000540963 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000120281 SCV000586878 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283528 SCV000602668 benign none provided 2020-09-01 criteria provided, single submitter clinical testing
GeneKor MSA RCV000120281 SCV000693603 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000120281 SCV000966257 benign not specified 2016-05-23 criteria provided, single submitter clinical testing p.Gln356Arg in exon 10 of BRCA1: This variant is not expected to have clinical s ignificance because it has been identified in 7.83% (518/6614) of Finnish chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs1799950).
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000111539 SCV001251953 benign Breast-ovarian cancer, familial 1 2020-05-03 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000111539 SCV001440860 benign Breast-ovarian cancer, familial 1 2019-01-01 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034725 SCV000043183 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
ITMI RCV000120281 SCV000084433 not provided not specified 2013-09-19 no assertion provided reference population
Breast Cancer Information Core (BIC) (BRCA1) RCV000111539 SCV000143996 uncertain significance Breast-ovarian cancer, familial 1 1999-12-22 no assertion criteria provided clinical testing
Pathway Genomics RCV000111539 SCV000187722 likely benign Breast-ovarian cancer, familial 1 2014-07-24 no assertion criteria provided literature only
Sharing Clinical Reports Project (SCRP) RCV000111539 SCV000189324 benign Breast-ovarian cancer, familial 1 2011-03-15 no assertion criteria provided clinical testing
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. RCV000207264 SCV000258683 uncertain significance Ductal breast carcinoma 2015-07-20 no assertion criteria provided research
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000120281 SCV000587098 benign not specified 2014-01-31 no assertion criteria provided research
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120281 SCV000591315 benign not specified no assertion criteria provided clinical testing The p.Gln356Arg variant is not expected to have clinical significance because it is identified at a high frequency in various different populations of origin. In the 1000 genomes and exome variant server databases it was identified in 658 of 22636 control chromosomes. In addition, this variant was identified in the UMD database 16 x and 3 times in the presence of a co-occuring pathogenic variant increasing the likelihood this variant does not have clinical significance. In summary, based on the above information, this variant is classified as benign.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000111539 SCV000733662 benign Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000034725 SCV000778773 benign not provided 2016-12-06 no assertion criteria provided clinical testing
True Health Diagnostics RCV000132455 SCV000787891 benign Hereditary cancer-predisposing syndrome 2018-03-02 no assertion criteria provided clinical testing
Center of Medical Genetics and Primary Health Care RCV001269352 SCV001448697 benign Malignant tumor of breast 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.