ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1109A>G (p.Asn370Ser) (rs777511615)

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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 RCV000569917 SCV000668877 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000569917 SCV000689247 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Counsyl RCV000662391 SCV000784800 uncertain significance Fanconi anemia, complementation group J; Neoplasm of ovary 2017-01-17 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586091 SCV000699659 uncertain significance not provided 2017-06-05 criteria provided, single submitter clinical testing Variant summary: The BRIP1 c.1109A>G (p.Asn370Ser) variant located in the P-loop containing nucleoside triphosphate hydrolase domain (via InterPro) involves the alteration of a conserved nucleotide and 2/4 in silico tools (SNPsandGO not captured due to low reliability index) predict a benign outcome. However, these predictions have yet to be functionally assessed. This variant was found in 1/122506 control chromosomes at a frequency of 0.0000082, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRIP1 variant (0.0000625). Multiple publications have cited the variant in affected cohorts, however, limited information is available (ie, lack of co-occurrence and cosegregation data). The variant of interest has not, to our knowledge, been reported by reputable databases/clinical diagnostic laboratories. Therefore, until additional information becomes available, ie, clinical and functional studies, the variant of interest has been classified as a "Variant of Uncertain Significance (VUS)."

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