ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.972A>T (p.Thr324=)

gnomAD frequency: 0.00001  dbSNP: rs779627397
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000203800 SCV000259334 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2024-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565332 SCV000666177 likely benign Hereditary cancer-predisposing syndrome 2016-04-08 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.
Color Diagnostics, LLC DBA Color Health RCV000565332 SCV000684316 likely benign Hereditary cancer-predisposing syndrome 2016-05-02 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004786539 SCV005407283 benign Familial cancer of breast 2024-08-22 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 RCV001194721 SCV001364489 benign not specified 2019-08-13 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Yukihide Momozawa.

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