ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.227T>C (p.Ile76Thr)

gnomAD frequency: 0.00001  dbSNP: rs1221534458
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000580358 SCV000682612 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765750 SCV000897133 uncertain significance BAP1-related tumor predisposition syndrome 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000765750 SCV001386682 uncertain significance BAP1-related tumor predisposition syndrome 2024-11-18 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 76 of the BAP1 protein (p.Ile76Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BAP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 489632). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt BAP1 protein function with a negative predictive value of 80%. 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.
Ambry Genetics RCV000580358 SCV002736249 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-21 criteria provided, single submitter clinical testing The p.I76T variant (also known as c.227T>C), located in coding exon 4 of the BAP1 gene, results from a T to C substitution at nucleotide position 227. The isoleucine at codon 76 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV000765750 SCV004214890 uncertain significance BAP1-related tumor predisposition syndrome 2023-06-15 criteria provided, single submitter clinical testing
Mendelics RCV004698843 SCV005200751 uncertain significance Hereditary cancer 2024-08-12 criteria provided, single submitter clinical testing

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