ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.649G>A (p.Ala217Thr)

gnomAD frequency: 0.00001  dbSNP: rs1553645702
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526196 SCV000651899 uncertain significance BAP1-related tumor predisposition syndrome 2023-05-12 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BAP1 protein function. ClinVar contains an entry for this variant (Variation ID: 472711). This variant has not been reported in the literature in individuals affected with BAP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 217 of the BAP1 protein (p.Ala217Thr).
Ambry Genetics RCV001025336 SCV001187508 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-30 criteria provided, single submitter clinical testing The p.A217T variant (also known as c.649G>A), located in coding exon 8 of the BAP1 gene, results from a G to A substitution at nucleotide position 649. The alanine at codon 217 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003900222 SCV004710046 uncertain significance BAP1-related condition 2024-01-03 criteria provided, single submitter clinical testing The BAP1 c.649G>A variant is predicted to result in the amino acid substitution p.Ala217Thr. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. This variant is interpreted with uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/472711/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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