ClinVar Miner

Submissions for variant NM_001048171.1(MUTYH):c.1506G>A (p.Pro502=) (rs143796254)

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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 RCV000163840 SCV000214426 likely benign Hereditary cancer-predisposing syndrome 2014-07-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV001084408 SCV000253353 likely benign MYH-associated polyposis 2020-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000427252 SCV000513741 benign not specified 2015-04-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Health, Inc RCV000163840 SCV000685594 likely benign Hereditary cancer-predisposing syndrome 2016-06-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000427252 SCV000697684 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000586077 SCV000885751 likely benign not provided 2018-06-26 criteria provided, single submitter clinical testing The MUTYH c.1548G>A; p.Pro516Pro variant (rs143796254), also known as c.1506G>A; p.Pro502Pro for NM_001048171.1, is reported in the literature in individuals with different types of cancer but described as a polymorphism (Al-Tassan 2004, Olschwang 2007, Sulova 2007, Tung 2015). This variant is classified as benign or likely benign by several laboratories in ClinVar (Variation ID: 184566), and is found in the general European population with an allele frequency of 0.02% (27/126648 alleles) in the Genome Aggregation Database. This is a synonymous variant in a weakly conserved nucleotide, and computational analyses (Alamut v.2.11) predict that this variant does not alter splicing. Based on available information, this variant is considered to be likely benign. REFERENCES Al-Tassan N et al. Inherited variants in MYH are unlikely to contribute to the risk of lung carcinoma. Hum Genet. 2004 Jan;114(2):207-10. Olschwang S et al. Similar colorectal cancer risk in patients with monoallelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposis. Genet Test. 2007 Fall;11(3):315-20. Sulova M et al. Mutation analysis of the MYH gene in unrelated Czech APC mutation-negative polyposis patients. Eur J Cancer. 2007 Jul;43(10):1617-21. Tung N et al. Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Cancer. 2015 Jan 1;121(1):25-33.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586077 SCV000889527 likely benign not provided 2019-03-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001084408 SCV001257601 uncertain significance MYH-associated polyposis 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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