Submissions for variant NM_007294.4(BRCA1):c.5332+13G>T

gnomAD frequency: 0.00007  dbSNP: rs372391060

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000206118	SCV000261835	benign	Hereditary breast ovarian cancer syndrome	2024-01-25	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000206118	SCV000494407	benign	Hereditary breast ovarian cancer syndrome	2016-03-28	criteria provided, single submitter	clinical testing	Variant summary: The c.5332+13G>T variant affects a non-conserved intronic nucleotide. One in-silico tool predicts benign outcome for this variant. 4/5 programs in Alamut predict that this variant does not affect normal splicing. this prediction has been confirmed by multiple experimental studies. This variant is found exclusively in 7/66330 European (Non-Finnish) control chromosomes at a frequency of 0.000105533, which does not significantly exceed maximal expected frequency of a pathogenic allele (0.0010005). Co-occurrences with pathogenic BRCA1 variants have been reported in three patients (UMD database). In addition, one clinical laboratory classified this variant as benign. Taken together, this variant was classified as benign.
GeneDx	RCV000425632	SCV000517288	benign	not specified	2015-08-18	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.
Fulgent Genetics, Fulgent Genetics	RCV000488127	SCV000575721	likely benign	Breast-ovarian cancer, familial, susceptibility to, 1	2015-08-07	criteria provided, single submitter	clinical testing
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency	RCV000425632	SCV000586909	likely benign	not specified	2017-04-19	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000579488	SCV000683289	likely benign	Hereditary cancer-predisposing syndrome	2015-08-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000425632	SCV000806970	benign	not specified	2017-05-30	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000425632	SCV004026747	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing