ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6465C>T (p.Leu2155=) (rs746099644)

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Total submissions: 11
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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) RCV000495045 SCV000578793 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/).
Ambry Genetics RCV000164211 SCV000214832 likely benign Hereditary cancer-predisposing syndrome 2014-11-25 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.
Invitae RCV000199184 SCV000253025 likely benign Hereditary breast and ovarian cancer syndrome 2020-11-27 criteria provided, single submitter clinical testing
GeneDx RCV000434642 SCV000512380 likely benign not specified 2018-01-04 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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000495045 SCV000744493 benign Breast-ovarian cancer, familial 2 2017-06-28 criteria provided, single submitter clinical testing
Counsyl RCV000495045 SCV000785921 likely benign Breast-ovarian cancer, familial 2 2018-01-10 criteria provided, single submitter clinical testing
Color Health, Inc RCV000164211 SCV000906504 likely benign Hereditary cancer-predisposing syndrome 2016-04-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000434642 SCV001337778 likely benign not specified 2020-01-14 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001353402 SCV000592053 likely benign Malignant tumor of breast no assertion criteria provided clinical testing The p.Leu2155Leu variant was not identified in the literature, nor was it identified in the dbSNP, NHLBI Exome Sequencing Project (Exome Variant Server), LOVD, COSMIC, Clinvitae, ARUP Laboratories BRCA Mutations Database, GeneInsight COGR, or BIC. This variant was identified in BRCA Share classified as unknown, and in ClinVar classified as likely benign. The variant was identified in the Exome Aggregation Consortium (ExAC) database (released Jan 13, 2015) in 2 of 65760 chromosomes (frequency: 0.00002) from a European (Non-Finnish) population. The p.Leu2155Leu 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.
Clinical Genetics Laboratory, Department of Pathology,Netherlands Cancer Institute RCV001689708 SCV001906117 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV001689708 SCV001958093 likely benign not provided no assertion criteria provided clinical testing

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