ClinVar Miner

Submissions for variant NM_006361.6(HOXB13):c.761G>C (p.Ser254Thr)

gnomAD frequency: 0.00009  dbSNP: rs769938759
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001026629 SCV001189050 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-23 criteria provided, single submitter clinical testing The c.761G>C (p.S254T) alteration is located in exon 2 (coding exon 2) of the HOXB13 gene. This alteration results from a G to C substitution at nucleotide position 761, causing the serine (S) at amino acid position 254 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001046916 SCV001210839 uncertain significance not provided 2024-01-18 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 254 of the HOXB13 protein (p.Ser254Thr). This variant is present in population databases (rs769938759, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with HOXB13-related conditions. ClinVar contains an entry for this variant (Variation ID: 827155). 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 HOXB13 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.
GeneDx RCV001046916 SCV003923626 uncertain significance not provided 2024-06-30 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 19389631, 8756292, 28072499)
Fulgent Genetics, Fulgent Genetics RCV005021336 SCV005644226 uncertain significance Prostate cancer, hereditary, 9 2024-01-22 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.