ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.36C>T (p.His12=)

gnomAD frequency: 0.00001  dbSNP: rs776396492
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166650 SCV000217455 likely benign Hereditary cancer-predisposing syndrome 2014-11-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000233690 SCV000285965 likely benign Familial adenomatous polyposis 2 2024-01-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000166650 SCV000685670 likely benign Hereditary cancer-predisposing syndrome 2017-01-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284022 SCV001469579 likely benign not provided 2021-06-29 criteria provided, single submitter clinical testing
GeneDx RCV001284022 SCV001848095 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000166650 SCV002532330 likely benign Hereditary cancer-predisposing syndrome 2021-07-11 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV000233690 SCV004835682 likely benign Familial adenomatous polyposis 2 2023-11-30 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000233690 SCV001548594 likely benign Familial adenomatous polyposis 2 no assertion criteria provided clinical testing The MUTYH p.His26= variant was not identified in the literature nor was it identified in the GeneInsight-COGR, Cosmic, or UMD-LSDB, databases. The variant was identified in dbSNP (ID: rs776396492) as "With Likely benign allele ", and in ClinVar (classified as likely benign by Ambry Genetics, Invitae, Color Genomics). The variant was identified in control databases in 2 of 246264 chromosomes at a frequency of 0.000008 (Genome Aggregation Database Feb 27, 2017). The variant was observed in East Asian population in 2 of 17248 chromosomes (freq: 0.000116), while the variant was not observed in the African, Other, Latino, European, Ashkenazi Jewish, Finnish, and South Asian populations. The p.His26= variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. In addition, in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign.

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