ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2322C>T (p.Asp774=) (rs1057520434)

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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 RCV000573910 SCV000666250 likely benign Hereditary cancer-predisposing syndrome 2016-11-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000422132 SCV000515453 likely benign not specified 2018-01-31 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.
Integrated Genetics/Laboratory Corporation of America RCV000588601 SCV000699689 uncertain significance not provided 2017-05-15 criteria provided, single submitter clinical testing Variant summary: The BRIP1 c.2322C>T (p.Asp774Asp) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing and ESE finder predicts that this variant does not significantly affect ESE sites at the locus. However, these predictions have yet to be confirmed by functional studies. This variant is absent from the large control database ExAC (0/121320 control chromosomes). One clinical diagnostic laboratory has classified this variant as likely benign. To our knowledge, the variant of interest has not been reported in affected individuals via publications, nor has it been evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign until additional data becomes available.
Invitae RCV000558200 SCV000633604 likely benign Familial cancer of breast; Fanconi anemia, complementation group J 2017-07-24 criteria provided, single submitter clinical testing

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