NM_000255.4(MMUT):c.1489G>T (p.Glu497Ter) AND Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: May 29, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000236003.2

Allele description [Variation Report for NM_000255.4(MMUT):c.1489G>T (p.Glu497Ter)]

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

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.1489G>T (p.Glu497Ter)
HGVS:
  • NC_000006.12:g.49447741C>A
  • NG_007100.1:g.20399G>T
  • NM_000255.4:c.1489G>TMANE SELECT
  • NP_000246.2:p.Glu497Ter
  • NC_000006.11:g.49415454C>A
  • NM_000255.3:c.1489G>T
Protein change:
E497*
Links:
dbSNP: rs879253844
NCBI 1000 Genomes Browser:
rs879253844
Molecular consequence:
  • NM_000255.4:c.1489G>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
SCV000262806University Children's Hospital, University of Zurichcriteria provided, single submitter
Pathogenicgermlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV000790895Counsylcriteria provided, single submitter
Likely pathogenic
(May 29, 2018)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

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

Citations

PubMed

Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.

Burda P, Schäfer A, Suormala T, Rummel T, Bürer C, Heuberger D, Frapolli M, Giunta C, Sokolová J, Vlášková H, Kožich V, Koch HG, Fowler B, Froese DS, Baumgartner MR.

Hum Mutat. 2015 Jun;36(6):611-21. doi: 10.1002/humu.22779. Epub 2015 Apr 27.

PubMed [citation]
PMID:
25736335

Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.

Forny P, Schnellmann AS, Buerer C, Lutz S, Fowler B, Froese DS, Baumgartner MR.

Hum Mutat. 2016 Aug;37(8):745-54. doi: 10.1002/humu.23013. Epub 2016 May 23.

PubMed [citation]
PMID:
27167370

Details of each submission

From University Children's Hospital, University of Zurich, SCV000262806.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Counsyl, SCV000790895.1

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

Last Updated: Sep 29, 2021

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