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NM_000255.4(MMUT):c.1489G>T (p.Glu497Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jul 10, 2018)
Last evaluated:
May 29, 2018
Accession:
VCV000222934.2
Variation ID:
222934
Description:
single nucleotide variant
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NM_000255.4(MMUT):c.1489G>T (p.Glu497Ter)

Allele ID
224627
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p12.3
Genomic location
6: 49447741 (GRCh38) GRCh38 UCSC
6: 49415454 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.49415454C>A
NC_000006.12:g.49447741C>A
NG_007100.1:g.20399G>T
NM_000255.4:c.1489G>T MANE Select NP_000246.2:p.Glu497Ter nonsense
Protein change
E497*
Other names
-
Canonical SPDI
NC_000006.12:49447740:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10575864
dbSNP: rs879253844
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts May 29, 2018 RCV000236003.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MMUT - - GRCh38
GRCh37
589 611

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
(Autosomal recessive inheritance)
Allele origin: germline
University Children's Hospital, University of Zurich
Accession: SCV000262806.1
Submitted: (Feb 12, 2016)
Evidence details
Publications
PubMed (2)
Likely pathogenic
(May 29, 2018)
criteria provided, single submitter
Method: clinical testing
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Allele origin: unknown
Counsyl
Accession: SCV000790895.1
Submitted: (Jul 10, 2018)
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
Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT. Forny P Human mutation 2016 PMID: 27167370
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients. Burda P Human mutation 2015 PMID: 25736335

Text-mined citations for rs879253844...

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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