ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2121T>C (p.Arg707=)

gnomAD frequency: 0.00001  dbSNP: rs1481107855
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001014523 SCV001175241 likely benign Hereditary cancer-predisposing syndrome 2018-05-11 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002068888 SCV002457491 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2023-11-17 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004792615 SCV005405036 benign Familial cancer of breast 2024-09-03 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
Leiden Open Variation Database RCV001194769 SCV001364552 uncertain significance not provided 2019-08-13 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Yukihide Momozawa.

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