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

dbSNP: rs80358174

Total submissions: 6

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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000469310	SCV000560279	likely benign	Hereditary breast ovarian cancer syndrome	2024-02-13	criteria provided, single submitter	clinical testing
Breast Cancer Information Core (BIC) (BRCA1)	RCV000112016	SCV000144659	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 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, susceptibility to, 1		no assertion provided	in vitro