ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.587A>G (p.Asn196Ser) (rs550707862)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235147 SCV000150072 likely benign not specified 2018-01-02 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.
Ambry Genetics RCV000116163 SCV000184386 likely benign Hereditary cancer-predisposing syndrome 2018-03-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
Invitae RCV000198125 SCV000253631 likely benign Familial cancer of breast; Fanconi anemia, complementation group J 2018-01-09 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586611 SCV000699731 likely benign not provided 2017-05-15 criteria provided, single submitter clinical testing Variant summary: The BRIP1 c.587A>G (p.Asn196Ser) variant involves the alteration of a non-conserved nucleotide. 5/5 in silico tools predict a benign outcome for this variant. This variant was found in 55/121326 control chromosomes, predominantly observed in the East Asian subpopulation at a frequency of 0.005904 (51/8638). This frequency is about 94 times the estimated maximal expected allele frequency of a pathogenic BRIP1 variant (0.0000625), suggesting this is likely a benign polymorphism found primarily in the populations of East Asian origin. The variant has been reported in three East Asian patients with breast cancer in the literature (Cao_2009, Kim_2016), without strong evidence for causality. Multiple clinical diagnostic laboratories/reputable databases have classified this variant as likely benign. Taken together, this variant is classified as "likely benign".
Color RCV000116163 SCV000910593 benign Hereditary cancer-predisposing syndrome 2015-04-06 criteria provided, single submitter clinical testing

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