Submissions for variant NM_032043.3(BRIP1):c.918+15T>A

gnomAD frequency: 0.00078  dbSNP: rs117820198

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000212305	SCV000167442	benign	not specified	2014-02-05	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.
Illumina Laboratory Services, Illumina	RCV000410388	SCV000404612	likely benign	Fanconi anemia complementation group J	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Counsyl	RCV000410388	SCV000489859	benign	Fanconi anemia complementation group J	2016-07-05	criteria provided, single submitter	clinical testing
Counsyl	RCV000411896	SCV000489860	benign	Ovarian neoplasm	2016-07-05	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000124033	SCV000537403	benign	Hereditary cancer-predisposing syndrome	2015-04-08	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001701759	SCV001471390	benign	not provided	2021-09-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002055434	SCV002407192	benign	Familial cancer of breast; Fanconi anemia complementation group J	2024-02-01	criteria provided, single submitter	clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	RCV002225404	SCV002505042	benign	Hereditary breast ovarian cancer syndrome	2022-04-19	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000212305	SCV002551196	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003149854	SCV003837713	benign	Breast and/or ovarian cancer	2021-07-05	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003315842	SCV004016919	benign	Familial cancer of breast	2023-07-07	criteria provided, single submitter	clinical testing
University of Washington Department of Laboratory Medicine, University of Washington	RCV000124033	SCV000265069	likely benign	Hereditary cancer-predisposing syndrome	2015-12-01	no assertion criteria provided	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001356961	SCV001552267	benign	Malignant tumor of breast		no assertion criteria provided	clinical testing	The BRIP1 r.(spl?) variant was identified in 9 of 714 proband chromosomes (frequency: 0.01) from individuals or families with breast cancer and was not identified in 1728 control chromosomes from healthy individuals (Cao 2009). The variant was also identified in dbSBP (ID: rs117820198) as other, ClinVar and Clinvitae (benign by Counsyl, Color Genomics, GeneDx; and likely benign by Illumina and University of Washington), Zhejiang Colon Cancer Database (1x as unknown) databases. The variant was not identified in Cosmic or MutDB databases. The variant was also identified by our laboratory in 1 individuals with breast cancer who is of Asian descent. The variant was identified in control databases in 777 of 276108 chromosomes (11 homozygous individuals) at a frequency of 0.003 increasing the likelihood that this may be a low frequency benign variant in certain populations of origin (Genome Aggregation Consortium Feb 27, 2017). The variant was identified in the following populations at a frequency greater than 1%: East Asian in 751 of 18858 chromosomes (freq: 0.04). The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In summary, based on the above information this variant meets our laboratory's criteria to be classified as benign.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000212305	SCV001808685	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701759	SCV001928395	likely benign	not provided		no assertion criteria provided	clinical testing