ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2811T>C (p.Asp937=) (rs374335608)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163081 SCV000213583 likely benign Hereditary cancer-predisposing syndrome 2014-10-14 criteria provided, single submitter clinical testing
Color RCV000163081 SCV000912103 likely benign Hereditary cancer-predisposing syndrome 2017-11-16 criteria provided, single submitter clinical testing
GeneDx RCV000440198 SCV000517424 likely benign not specified 2016-03-14 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.
Illumina Clinical Services Laboratory,Illumina RCV000317394 SCV000404584 uncertain significance Neoplasm of the breast 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374312 SCV000404585 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589816 SCV000699704 uncertain significance not provided 2016-11-25 criteria provided, single submitter clinical testing Variant summary: The BRIP1 c.2811T>C (p.Asp937Asp) variant causes a synonymous change involving a non-conserved nucleotide, which 5/5 splice prediction tools predict no significant impact on normal splicing and ESE finder predicts that this variant may affect ESE binding sites. However, these predictions have yet to be confirmed by functional studies. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 2/121386 (1/60693), which does not exceed the estimated maximal expected allele frequency for a pathogenic BRIP1 variant of 1/16000(0.0000625). Two clinical diagnostic laboratories have classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications, although multiple clinical diagnostic laboratories have cited the variant as "likely benign." Therefore, until additional information becomes available (ie, clinical and functional studies), the variant of interest has been classified as a "Variant of Uncertain Signficiance - possibly benign."
Invitae RCV000233012 SCV000291025 likely benign Familial cancer of breast; Fanconi anemia, complementation group J 2017-11-14 criteria provided, single submitter clinical testing

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