ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) (rs1800740)

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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) RCV000111927 SCV000578175 likely benign Breast-ovarian cancer, familial 1 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Invitae RCV000047951 SCV000075964 benign Hereditary breast and ovarian cancer syndrome 2020-12-07 criteria provided, single submitter clinical testing
Counsyl RCV000111927 SCV000154016 likely benign Breast-ovarian cancer, familial 1 2014-01-25 criteria provided, single submitter literature only
Ambry Genetics RCV000162536 SCV000212937 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 RCV000768646 SCV000219222 benign Breast and/or ovarian cancer 2017-01-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000284446 SCV000333833 likely benign not specified 2015-08-12 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000284446 SCV000586888 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Color Health, Inc RCV000162536 SCV000683059 likely benign Hereditary cancer-predisposing syndrome 2015-04-27 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000111927 SCV000744647 benign Breast-ovarian cancer, familial 1 2017-06-28 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000284446 SCV000806925 benign not specified 2017-01-30 criteria provided, single submitter clinical testing
Mendelics RCV000111927 SCV001140570 likely benign Breast-ovarian cancer, familial 1 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000111927 SCV001280878 likely benign Breast-ovarian cancer, familial 1 2019-08-14 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287645 SCV001474355 benign none provided 2019-10-07 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111927 SCV000144529 uncertain significance Breast-ovarian cancer, familial 1 2010-12-17 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000111927 SCV000189335 benign Breast-ovarian cancer, familial 1 2011-03-02 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000111927 SCV000591408 benign Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing The p.Gly911Gly variant has been identified in 12 out of 8424 proband chromosomes (frequency 0.001) in individuals with sporadic and familial breast and ovarian cancer phenotype; and was absent in 48 control chromosomes included in these studies (Judkins 2005, van der Hout 2006, Uhrhammer 2008, Caux-Moncoutier 2009, Borg 2010). It is listed in dbSNP database” (ID#: rs1800740) while no information was provided, however, in the exome server it is found in 5/8595 (frequency 0.0006) in European and 1/4405 (frequency 0.0003) in African populations, suggesting that this is a benign variant. In addition, in the UMD database, this variant has been identified in 2 (out of 43) individuals with breast or ovarian cancers, where a second pathogenic BRCA1 or BRCA2 mutation was also detected, further suggesting that this is a benign variant. In addition, it was identified by our laboratory in one individual with a second pathogenic variant. This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located near a splice junction. In addition, in-silico or computational prediction software (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predicts no change in the splice site prediction score. In summary, based on above information this variant is classified as Benign
True Health Diagnostics RCV000162536 SCV000886668 likely benign Hereditary cancer-predisposing syndrome 2018-09-28 no assertion criteria provided clinical testing

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