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NM_001048171.1(MUTYH):c.1033C>A (p.Pro345Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 1, 2021)
Last evaluated:
Oct 21, 2020
Accession:
VCV000142860.12
Variation ID:
142860
Description:
single nucleotide variant
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NM_001048171.1(MUTYH):c.1033C>A (p.Pro345Thr)

Allele ID
152574
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p34.1
Genomic location
1: 45331772 (GRCh38) GRCh38 UCSC
1: 45797444 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.45797444G>T
NC_000001.11:g.45331772G>T
NG_008189.1:g.13699C>A
... more HGVS
Protein change
P359T, P345T, P331T, P332T, P346T, P216T, P239T, P342T, P356T
Other names
-
Canonical SPDI
NC_000001.11:45331771:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00003
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA012067
dbSNP: rs587782773
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 Sep 3, 2020 RCV000132303.9
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Oct 21, 2020 RCV000411922.7
Uncertain significance 1 criteria provided, single submitter Sep 28, 2018 RCV000780503.1
Uncertain significance 1 criteria provided, single submitter Jun 10, 2020 RCV001582608.3
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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
(Sep 03, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000187388.6
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (3)
Comment:
The p.P359T variant (also known as c.1075C>A), located in coding exon 12 of the MUTYH gene, results from a C to A substitution at nucleotide … (more)
Uncertain significance
(Aug 08, 2016)
criteria provided, single submitter
Method: clinical testing
MYH-associated polyposis
Allele origin: unknown
Counsyl
Accession: SCV000487368.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Sep 28, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000917808.1
Submitted: (Apr 24, 2019)
Evidence details
Publications
PubMed (1)
Comment:
Variant summary: MUTYH c.1075C>A (p.Pro359Thr) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging … (more)
Uncertain significance
(Nov 07, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000690497.3
Submitted: (May 19, 2020)
Comment:
This missense variant replaces proline with threonine at codon 359 of the MUTYH protein. Computational prediction is inconclusive regarding the impact of this variant on … (more)
Evidence details
Uncertain significance
(Oct 21, 2020)
criteria provided, single submitter
Method: clinical testing
MYH-associated polyposis
Allele origin: germline
Invitae
Accession: SCV000545747.7
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces proline with threonine at codon 359 of the MUTYH protein (p.Pro359Thr). The proline residue is highly conserved and there is a … (more)
Uncertain significance
(Jun 10, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001819443.1
Submitted: (Sep 01, 2021)
Evidence details
Comment:
Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this missense variant has a deleterious effect on … (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
Advances in Identification of Susceptibility Gene Defects of Hereditary Colorectal Cancer. Liu Q Journal of Cancer 2019 PMID: 30719162
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. DeRycke MS Molecular genetics & genomic medicine 2017 PMID: 28944238
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
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. Maxwell KN American journal of human genetics 2016 PMID: 27153395
Base-excision repair of oxidative DNA damage. David SS Nature 2007 PMID: 17581577
MUTYH-associated polyposis--from defect in base excision repair to clinical genetic testing. Cheadle JP DNA repair 2007 PMID: 17161978

Text-mined citations for rs587782773...

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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