NM_000255.4(MMUT):c.670G>T (p.Glu224Ter) AND Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Clinical significance:Likely pathogenic (Last evaluated: Jul 5, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000668034.3

Allele description [Variation Report for NM_000255.4(MMUT):c.670G>T (p.Glu224Ter)]

NM_000255.4(MMUT):c.670G>T (p.Glu224Ter)

Gene:
MMUT:methylmalonyl-CoA mutase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p12.3
Genomic location:
Preferred name:
NM_000255.4(MMUT):c.670G>T (p.Glu224Ter)
HGVS:
  • NC_000006.12:g.49457774C>A
  • NG_007100.1:g.10366G>T
  • NM_000255.4:c.670G>TMANE SELECT
  • NP_000246.2:p.Glu224Ter
  • NC_000006.11:g.49425487C>A
  • NM_000255.3:c.670G>T
Protein change:
E224*
Links:
dbSNP: rs1554160638
NCBI 1000 Genomes Browser:
rs1554160638
Molecular consequence:
  • NM_000255.4:c.670G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Synonyms:
Methylmalonic aciduria, mut type; METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY
Identifiers:
MONDO: MONDO:0009612; MedGen: C1855114; OMIM: 251000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000792577Counsylcriteria provided, single submitter
Likely pathogenic
(Jul 5, 2017)
unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mitochondrial dysfunction in mut methylmalonic acidemia.

Chandler RJ, Zerfas PM, Shanske S, Sloan J, Hoffmann V, DiMauro S, Venditti CP.

FASEB J. 2009 Apr;23(4):1252-61. doi: 10.1096/fj.08-121848. Epub 2008 Dec 16.

PubMed [citation]
PMID:
19088183
PMCID:
PMC2660647

Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes.

Chandler RJ, Tsai MS, Dorko K, Sloan J, Korson M, Freeman R, Strom S, Venditti CP.

BMC Med Genet. 2007 Apr 30;8:24.

PubMed [citation]
PMID:
17470278
PMCID:
PMC1876207
See all PubMed Citations (4)

Details of each submission

From Counsyl, SCV000792577.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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