ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro)

gnomAD frequency: 0.61453  dbSNP: rs4986764
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Total submissions: 21
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132148 SCV000187219 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV000120400 SCV000314839 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000412161 SCV000404589 benign Fanconi anemia complementation group J 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Counsyl RCV000412161 SCV000489869 benign Fanconi anemia complementation group J 2016-06-18 criteria provided, single submitter clinical testing
Counsyl RCV000410195 SCV000489870 benign Ovarian neoplasm 2016-06-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000132148 SCV000537322 benign Hereditary cancer-predisposing syndrome 2014-11-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000120400 SCV000538506 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001640104 SCV000602887 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
IntelligeneCG RCV000412161 SCV000611725 benign Fanconi anemia complementation group J 2017-08-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000755225 SCV000633636 benign Familial cancer of breast; Fanconi anemia complementation group J 2024-02-01 criteria provided, single submitter clinical testing
Mendelics RCV000989991 SCV001140753 benign Familial cancer of breast 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001640104 SCV001861546 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23644138, 26790966, 24301948, 28382101, 24728327, 27153395, 26921362, 15113441, 23473757)
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV002225368 SCV002505016 benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000989991 SCV004016907 benign Familial cancer of breast 2023-07-07 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000989991 SCV004019473 benign Familial cancer of breast 2023-03-02 criteria provided, single submitter clinical testing This variant is considered benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
Breakthrough Genomics, Breakthrough Genomics RCV001640104 SCV005252917 benign not provided criteria provided, single submitter not provided
ITMI RCV000120400 SCV000084552 not provided not specified 2013-09-19 no assertion provided reference population
Leiden Open Variation Database RCV000120400 SCV001364499 likely benign not specified 2019-08-13 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitters to LOVD: Maximiliano Zeballos, Yukihide Momozawa.
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000120400 SCV001906358 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000120400 SCV001931876 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000120400 SCV001955583 benign not specified no assertion criteria provided clinical testing

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