ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7521A>G (p.Pro2507=) (rs759383358)

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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) RCV000191161 SCV000244472 benign Breast-ovarian cancer, familial 2 2015-08-10 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.0000989
Ambry Genetics RCV000163178 SCV000213699 benign Hereditary cancer-predisposing syndrome 2016-03-01 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV001084279 SCV000253037 likely benign Hereditary breast and ovarian cancer syndrome 2020-09-17 criteria provided, single submitter clinical testing
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University RCV000240774 SCV000265957 uncertain significance Breast neoplasm 2015-11-01 criteria provided, single submitter research
GeneDx RCV000444567 SCV000512387 benign not specified 2015-03-18 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.
Color Health, Inc RCV000163178 SCV000683882 benign Hereditary cancer-predisposing syndrome 2016-04-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759659 SCV000889130 likely benign not provided 2017-12-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000444567 SCV000918949 likely benign not specified 2021-01-08 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV001640213 SCV001854932 benign Breast-ovarian cancer, familial 2; Breast-ovarian cancer, familial 1; Hereditary breast and ovarian cancer syndrome 2020-01-20 criteria provided, single submitter curation
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000759659 SCV000592119 likely benign not provided no assertion criteria provided clinical testing The p.Pro2507Pro 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. This variant was not identified in the literature. It was identified only once in the UMD databases and not in other BRCA2 locus specific databases. 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.

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