ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.249A>G (p.Gln83=) (rs45528833)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000178374 SCV000885121 likely benign not provided 2018-03-17 criteria provided, single submitter clinical testing The c.249A>G; p.Gln83Gln variant (rs45528833, ClinVar variant ID 184395) does not alter the amino acid sequence of the BRIP1 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant was detected in one individual among a healthy control cohort in a study of breast cancer risk (Guenard 2008). This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.008% (identified on 21 out of 277,152 chromosomes). Based on the available information, the c.249A>G variant is likely to be benign.
Ambry Genetics RCV000163644 SCV000214214 likely benign Hereditary cancer-predisposing syndrome 2014-10-08 criteria provided, single submitter clinical testing
Color RCV000163644 SCV000684218 likely benign Hereditary cancer-predisposing syndrome 2016-09-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178374 SCV000230443 uncertain significance not provided 2015-04-09 criteria provided, single submitter clinical testing
Invitae RCV000195494 SCV000253624 likely benign Familial cancer of breast; Fanconi anemia, complementation group J 2017-12-21 criteria provided, single submitter clinical testing

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