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
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
