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NM_001048171.1(MUTYH):c.1259C>T (p.Thr420Met)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jun 11, 2021)
Last evaluated:
Oct 23, 2020
Accession:
VCV000127837.11
Variation ID:
127837
Description:
single nucleotide variant
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NM_001048171.1(MUTYH):c.1259C>T (p.Thr420Met)

Allele ID
133294
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p34.1
Genomic location
1: 45331442 (GRCh38) GRCh38 UCSC
1: 45797114 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_220:g.14029C>T
NC_000001.10:g.45797114G>A
NC_000001.11:g.45331442G>A
... more HGVS
Protein change
T434M, T420M, T291M, T314M, T406M, T407M, T417M, T421M, T431M
Other names
p.T434M:ACG>ATG
Canonical SPDI
NC_000001.11:45331441:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Exome Aggregation Consortium (ExAC) 0.00003
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA012538
dbSNP: rs587780084
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Oct 20, 2020 RCV000115757.11
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Aug 13, 2018 RCV000235188.4
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Oct 23, 2020 RCV000411291.7
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MUTYH - - GRCh38
GRCh37
1646 1751

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 03, 2016)
criteria provided, single submitter
Method: clinical testing
MYH-associated polyposis
Allele origin: unknown
Counsyl
Accession: SCV000487339.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (2)
Uncertain significance
(Aug 13, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000888306.1
Submitted: (Aug 31, 2018)
Evidence details
Uncertain significance
(Jun 28, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000149666.14
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This variant is denoted MUTYH c.1301C>T at the cDNA level, p.Thr434Met (T434M) at the protein level, and results in the change of a Threonine to … (more)
Uncertain significance
(Apr 02, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000184172.6
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The p.T434M variant (also known as c.1301C>T), located in coding exon 13 of the MUTYH gene, results from a C to T substitution at nucleotide … (more)
Uncertain significance
(Oct 23, 2020)
criteria provided, single submitter
Method: clinical testing
MYH-associated polyposis
Allele origin: germline
Invitae
Accession: SCV000639269.6
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change replaces threonine with methionine at codon 434 of the MUTYH protein (p.Thr434Met). The threonine residue is weakly conserved and there is a … (more)
Uncertain significance
(Oct 20, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000690516.4
Submitted: (Jun 11, 2021)
Evidence details
Comment:
This missense variant replaces threonine with methionine at codon 434 of the MUTYH protein. This variant is also known as c.1259C>T (p.Thr420Met) based on the … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer. Yurgelun MB Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 PMID: 28135145
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. Yurgelun MB Gastroenterology 2015 PMID: 25980754
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. Bodian DL PloS one 2014 PMID: 24728327

Text-mined citations for rs587780084...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 29, 2021