ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2907T>C (p.Asn969=) (rs1555572999)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000781171 SCV000919050 uncertain significance not specified 2017-12-11 criteria provided, single submitter clinical testing Variant summary: The BRIP1 c.2907T>C (p.Asn969Asn) variant involves the alteration of a 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. ESE finder predicts that this variant may affect multiple ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant is absent in245150 control chromosomes in gnomAD. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000636203 SCV000757635 likely benign Familial cancer of breast; Fanconi anemia, complementation group J 2017-10-06 criteria provided, single submitter clinical testing

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