ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1257G>A (p.Arg419=)

gnomAD frequency: 0.00003  dbSNP: rs148429663
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160350 SCV000210856 benign not specified 2014-07-21 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000534624 SCV000633545 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2024-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570359 SCV000661539 likely benign Hereditary cancer-predisposing syndrome 2016-06-23 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 RCV000570359 SCV000684120 likely benign Hereditary cancer-predisposing syndrome 2016-12-10 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000570359 SCV002531340 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-16 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV004786436 SCV005403216 benign Familial cancer of breast 2024-08-26 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 RCV000160350 SCV001364516 benign not specified 2019-08-13 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Yukihide Momozawa.

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