ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.212+10T>G (rs80358174)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428041 SCV000529099 likely benign not specified 2016-06-22 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.
Invitae RCV000469310 SCV000560279 likely benign Hereditary breast and ovarian cancer syndrome 2019-09-10 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112016 SCV000144659 uncertain significance Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000428041 SCV000587037 uncertain significance not specified 2014-01-31 no assertion criteria provided research
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001353999 SCV000591251 uncertain significance Malignant tumor of breast no assertion criteria provided clinical testing The c.212+10T>G variant was not identified in the literature. The variant was identified in dbSNP (ID: rs80358174) “With likely benign allele” and “With uncertain significance allele”, the ClinVar database (classified as an “uncertain significance” variant by the BIC), GeneInsight VariantWire database (2X, classified as “unknown significance” and “IARC Class 3” by a clinical laboratory), the BIC database (1X with “unknown” clinical importance), and UMD (1X as a 3-UV variant). The variant occurs outside of the splicing consensus sequence and 2 of 5 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predict a greater than 10% difference in splicing; this is not very predictive of pathogenicity. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of unknown significance.
Brotman Baty Institute,University of Washington RCV000112016 SCV001241695 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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