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NM_001048171.1(MUTYH):c.958C>A (p.Pro320Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Aug 20, 2021)
Last evaluated:
Apr 5, 2021
Accession:
VCV000134861.11
Variation ID:
134861
Description:
single nucleotide variant
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NM_001048171.1(MUTYH):c.958C>A (p.Pro320Thr)

Allele ID
138600
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p34.1
Genomic location
1: 45331847 (GRCh38) GRCh38 UCSC
1: 45797519 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.45797519G>T
NC_000001.11:g.45331847G>T
NG_008189.1:g.13624C>A
... more HGVS
Protein change
P334T, P320T, P214T, P306T, P307T, P191T, P317T, P321T, P331T
Other names
-
Canonical SPDI
NC_000001.11:45331846:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA011921
dbSNP: rs587778537
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 Apr 9, 2020 RCV000218057.5
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Oct 7, 2020 RCV000411238.5
Uncertain significance 1 criteria provided, single submitter Apr 5, 2021 RCV001576763.3
not provided 1 no assertion provided Sep 19, 2013 RCV000121594.1
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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
(Apr 09, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000276032.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.P334T variant (also known as c.1000C>A), located in coding exon 12 of the MUTYH gene, results from a C to A substitution at nucleotide … (more)
Uncertain significance
(Oct 07, 2020)
criteria provided, single submitter
Method: clinical testing
MYH-associated polyposis
Allele origin: germline
Invitae
Accession: SCV000545796.5
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces proline with threonine at codon 334 of the MUTYH protein (p.Pro334Thr). The proline residue is weakly conserved and there is a … (more)
Uncertain significance
(Apr 05, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001804015.1
Submitted: (Aug 20, 2021)
Evidence details
Comment:
In silico analysis supports that this missense variant does not alter protein structure/function; Identified in healthy individuals undergoing whole genome sequencing (Bodian 2014); This variant … (more)
Uncertain significance
(Oct 13, 2016)
criteria provided, single submitter
Method: clinical testing
MYH-associated polyposis
Allele origin: unknown
Counsyl
Accession: SCV000487382.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (2)
Uncertain significance
(Jun 29, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000903810.2
Submitted: (May 19, 2020)
Evidence details
not provided
(Sep 19, 2013)
no assertion provided
Method: reference population
AllHighlyPenetrant
Allele origin: germline
ITMI
Accession: SCV000085790.1
Submitted: (May 29, 2014)
Comment:
Please see associated publication for description of ethnicities
Evidence details
Publications
PubMed (1)

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
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. Bodian DL PloS one 2014 PMID: 24728327
CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein. Terui H Journal of biomedical science 2013 PMID: 23621914

Text-mined citations for rs587778537...

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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