ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=) (rs41293491)

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Total submissions: 13
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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) RCV000113328 SCV000578870 likely benign Breast-ovarian cancer, familial 2 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 RCV001085696 SCV000072476 benign Hereditary breast and ovarian cancer syndrome 2020-12-06 criteria provided, single submitter clinical testing
GeneDx RCV000123975 SCV000167368 benign not specified 2014-05-20 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 RCV000131764 SCV000186808 likely benign Hereditary cancer-predisposing syndrome 2014-08-11 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.
Counsyl RCV000113328 SCV000220860 likely benign Breast-ovarian cancer, familial 2 2014-11-07 criteria provided, single submitter literature only
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000123975 SCV000538479 likely benign not specified 2016-12-02 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: This variant has not been reported in affected individuals. It is present in HGMD (classified as DM) in a publication describing a method for detecting variants. This variant is classified in ClinVar with 1 star as Benign or Likely Benign by 5 submitters: BIC, Invitae, Ambry, GeneDx, Counsyl. It is present in ExAC with a Max MAF of 0.009% (6 European alleles) and in gnomAD with a MaxMAF of 0.01% (14 European alleles).
Color Health, Inc RCV000131764 SCV000683641 likely benign Hereditary cancer-predisposing syndrome 2015-07-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000123975 SCV000694792 likely benign not specified 2019-07-28 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000589392 SCV000805711 likely benign not provided 2017-02-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589392 SCV000889058 likely benign not provided 2020-09-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000123975 SCV001157015 likely benign not specified 2018-10-16 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113328 SCV000146463 benign Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001353398 SCV000591917 benign Malignant tumor of breast no assertion criteria provided clinical testing The p.Gly1552Gly variant has been presented 7 times in the UMD and two times in the BIC database as having no clinical significance. It is listed in dbSNP database (ID#: rs41293491) coming from a “clinical source’ with an average heterozygosity of 0.000+/-0.015, therefore representing a rare variant in the population. This 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. In summary, the clinical significance of this variant cannot be determined with certainty at this time, although we would lean towards a more benign role for this variant. This variant is classified as Benign.

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