ClinVar Miner

Submissions for variant NM_006361.6(HOXB13):c.633C>A (p.Cys211Ter)

dbSNP: rs760440566
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001248322 SCV001421795 uncertain significance not provided 2023-10-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys211*) in the HOXB13 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 74 amino acid(s) of the HOXB13 protein. This variant is present in population databases (rs760440566, gnomAD 0.01%). 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: 972321). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV004951435 SCV005605246 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-08 criteria provided, single submitter clinical testing The p.C211* variant (also known as c.633C>A), located in coding exon 2 of the HOXB13 gene, results from a C to A substitution at nucleotide position 633. This changes the amino acid from a cysteine to a stop codon within coding exon 2. This alteration occurs at the 3' terminus of theHOXB13 gene, is not expected to trigger nonsense-mediated mRNAdecay, and only impacts the last 74 amino acids of the protein. The exact functional effect of this alteration is unknown. Based on the available evidence, the clinical significance of this variant remains unclear.
Laboratory for Genotyping Development, RIKEN RCV003166563 SCV002758215 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research

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