Submissions for variant NM_032043.3(BRIP1):c.1935+11G>A

gnomAD frequency: 0.00051  dbSNP: rs79121306

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000410950	SCV000490031	likely benign	Fanconi anemia complementation group J	2016-10-04	criteria provided, single submitter	clinical testing
Counsyl	RCV000411701	SCV000490032	likely benign	Ovarian neoplasm	2016-10-04	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000583266	SCV000689292	likely benign	Hereditary cancer-predisposing syndrome	2016-02-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000679778	SCV000807125	likely benign	not provided	2017-06-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000679778	SCV001898350	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821139	SCV002068247	likely benign	not specified	2019-01-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002058860	SCV002428973	likely benign	Familial cancer of breast; Fanconi anemia complementation group J	2025-01-30	criteria provided, single submitter	clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	RCV002225610	SCV002505033	benign	Hereditary breast ovarian cancer syndrome	2022-04-19	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV001821139	SCV002760979	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001357544	SCV001553044	likely benign	Familial ovarian cancer		no assertion criteria provided	clinical testing	The BRIP1 c.1935+11G>A variant was not identified in the literature nor was it identified in the Zhejiang University Database. The variant was identified in dbSNP (ID: rs79121306) as "With Likely benign allele" and ClinVar (classified as likely benign by Counsyl, Color, and Prevention Genetics). The variant was identified in control databases in 42 of 263786 chromosomes at a frequency of 0.0002 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: African in 39 of 23424 chromosomes (freq: 0.002), Other in 1 of 6130 chromosomes (freq: 0.0002), European in 1 of 122194 chromosomes (freq: 0.000008), and South Asian in 1 of 26422 chromosomes (freq: 0.00004), while the variant was not observed in the Latino, Ashkenazi Jewish, East Asian, or Finnish populations. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign.