Submissions for variant NM_032043.3(BRIP1):c.380-9T>C

gnomAD frequency: 0.00001  dbSNP: rs876661141

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000217751	SCV000279650	uncertain significance	not provided	2017-10-17	criteria provided, single submitter	clinical testing	This variant is denoted BRIP1 c.380-9T>C or IVS4-9T>C and consists of a T>C nucleotide substitution at the -9 position of intron 4 of the BRIP1 gene. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. The thymine (T) nucleotide that is altered is conserved across species. In silico splicing models are uninformative; therefore, in the absence of RNA or functional studies, the actual effect of this variant is unknown. Based on currently available information, it is unclear whether BRIP1 c.380-9T>C is pathogenic or benign. We consider it to be a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001089355	SCV001074297	likely benign	Familial cancer of breast; Fanconi anemia complementation group J	2024-12-11	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004791350	SCV005405095	likely benign	Familial cancer of breast	2024-08-21	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.