ClinVar Miner

Submissions for variant NM_006361.6(HOXB13):c.751del (p.Ala251fs)

dbSNP: rs1597932670
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002390731 SCV002671941 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-30 criteria provided, single submitter clinical testing The c.751delG variant, located in coding exon 2 of the HOXB13 gene, results from a deletion of one nucleotide at position 751, causing a translational frameshift with a predicted alternate stop codon (p.A251Qfs*28). This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of HOXB13 has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Laboratory of Virology, Microbiology, Quality and Medical Biotechnologies, Faculty of Sciences and Techniques - Mohammedia, Hassan II University of Casablanca RCV000856484 SCV000994475 uncertain significance Prostate cancer, hereditary, 1 no assertion criteria provided clinical testing

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