Submissions for variant NM_032043.3(BRIP1):c.942del (p.His314fs)

dbSNP: rs2077993152

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001190538	SCV001358043	likely pathogenic	Hereditary cancer-predisposing syndrome	2020-01-15	criteria provided, single submitter	clinical testing	This variant deletes 1 nucleotide in exon 8 of the BRIP1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRIP1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Likely Pathogenic.
Ambry Genetics	RCV001190538	SCV002683312	pathogenic	Hereditary cancer-predisposing syndrome	2020-01-08	criteria provided, single submitter	clinical testing	The c.942delT pathogenic mutation, located in coding exon 7 of the BRIP1 gene, results from a deletion of one nucleotide at nucleotide position 942, causing a translational frameshift with a predicted alternate stop codon (p.H314Qfs*24). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc.	RCV003336323	SCV004042993	pathogenic	Familial cancer of breast	2023-06-01	criteria provided, single submitter	clinical testing	This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.