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NM_025077.4(TOE1):c.-34C>T

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 30, 2020)
Last evaluated:
Aug 30, 2018
Accession:
VCV000483936.3
Variation ID:
483936
Description:
single nucleotide variant
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NM_025077.4(TOE1):c.-34C>T

Allele ID
472481
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p34.1
Genomic location
1: 45340219 (GRCh38) GRCh38 UCSC
1: 45805891 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_220:g.5252G>A
LRG_220t1:c.36G>A
NC_000001.10:g.45805891C>T
... more HGVS
Protein change
W12*
Other names
-
Canonical SPDI
NC_000001.11:45340218:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA340137829
dbSNP: rs767402084
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Aug 30, 2018 RCV000569145.1
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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
1650 1755
TOE1 - - GRCh38
GRCh37
41 146

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 30, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000670188.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.W12* pathogenic mutation (also known as c.36G>A), located in coding exon 1 of the MUTYH gene, results from a G to A substitution at … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs767402084...

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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 Nov 27, 2021