ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8124T>G (p.Thr2708=) (rs587780662)

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Total submissions: 10
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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) RCV000495618 SCV000578803 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 RCV001084860 SCV000166191 likely benign Hereditary breast and ovarian cancer syndrome 2019-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163849 SCV000214435 likely benign Hereditary cancer-predisposing syndrome 2016-10-20 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.
GeneDx RCV000122933 SCV000520489 likely benign not provided 2019-12-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000432204 SCV000602849 benign not specified 2016-12-28 criteria provided, single submitter clinical testing
Color Health, Inc RCV000163849 SCV000683944 likely benign Hereditary cancer-predisposing syndrome 2016-06-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000432204 SCV000695130 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000122933 SCV001148995 likely benign not provided 2018-06-01 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001353902 SCV000592174 likely benign Malignant tumor of breast no assertion criteria provided clinical testing The BRCA2 p.Thr2708Thr variant was not identified in the literature nor was it identified in the dbSNP, NHLBI Exome Sequencing Project (Exome Variant Server), HGMD, LOVD, COSMIC, UMD, or BIC databases. The p.Thr2708Thr variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. In addition, in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In summary, based on the above information, 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 predicted benign.
Human Genetics - Radboudumc,Radboudumc RCV000122933 SCV001952472 likely benign not provided no assertion criteria provided clinical testing

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