ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.981A>G (p.Thr327=) (rs1800063)

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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) RCV000111521 SCV000577997 benign Breast-ovarian cancer, familial 1 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to alter mRNA splicing (splicing prior 0.02; http://priors.hci.utah.edu/PRIORS/) and frequency 0.0021 (Admixed American/Latino), derived from ExAC (2014-12-17).
Invitae RCV000049210 SCV000077223 benign Hereditary breast and ovarian cancer syndrome 2020-12-07 criteria provided, single submitter clinical testing
Counsyl RCV000111521 SCV000154013 likely benign Breast-ovarian cancer, familial 1 2014-01-24 criteria provided, single submitter literature only
Ambry Genetics RCV000162537 SCV000212938 likely benign Hereditary cancer-predisposing syndrome 2014-06-25 criteria provided, single submitter clinical testing This alteration is classified as likely 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 RCV000376504 SCV000219202 benign not specified 2017-01-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000376504 SCV000333832 likely benign not specified 2015-08-12 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000376504 SCV000586876 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Color Health, Inc RCV000162537 SCV000683380 likely benign Hereditary cancer-predisposing syndrome 2015-04-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000376504 SCV000806988 benign not specified 2017-01-30 criteria provided, single submitter clinical testing
Mendelics RCV000111521 SCV001140615 likely benign Breast-ovarian cancer, familial 1 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000111521 SCV001280984 likely benign Breast-ovarian cancer, familial 1 2018-01-12 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287646 SCV001474356 benign none provided 2019-10-07 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111521 SCV000143971 uncertain significance Breast-ovarian cancer, familial 1 2011-07-08 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000111521 SCV000189351 benign Breast-ovarian cancer, familial 1 2011-03-02 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000376504 SCV000591310 benign not specified no assertion criteria provided clinical testing The p.Thr327Thr variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located near a splice junction. It has been reported in the literature in 14/10588 proband chromosomes from individuals with hereditary and sporadic breast and/ or ovarian carcer (Alsop_2012_22711857, Borg_2010_20104584, Caux-Moncoutier_2011_21120943, Malone_1998_9544766, Stoppa-Lyonnet_1997_9150149, Tazzite_2012_22425665, Uhrhammer_2008_18645608); but it was not identified in the limited number (142) of control chromosomes evaluated. It is listed in dbSNP as coming from a "clinical source" (ID#: rs1800063), but no frequency information was provided, and so the prevalence of this variant in the general population is not known. The variant has been identified in the BIC database (x1), UMD database (x30) as likely neutral, and classified in the BOCs database (x1) as benign (ACMG 5). In addition, this variant has been identified by our laboratory in one individual with a second pathogenic mutation, increasing the likelihood this variant is benign. In summary, based on the above information, the p.Arg3370Arg variant is classified as benign.
True Health Diagnostics RCV000162537 SCV000886670 likely benign Hereditary cancer-predisposing syndrome 2018-09-28 no assertion criteria provided clinical testing

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