NM_000255.4(MMUT):c.654A>C (p.Gln218His) AND Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Clinical significance:Likely pathogenic (Last evaluated: Mar 30, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000666245.1

Allele description [Variation Report for NM_000255.4(MMUT):c.654A>C (p.Gln218His)]

NM_000255.4(MMUT):c.654A>C (p.Gln218His)

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.654A>C (p.Gln218His)
HGVS:
  • NC_000006.12:g.49457790T>G
  • NG_007100.1:g.10350A>C
  • NM_000255.4:c.654A>CMANE SELECT
  • NP_000246.2:p.Gln218His
  • NC_000006.11:g.49425503T>G
  • NM_000255.3:c.654A>C
Protein change:
Q218H
Links:
dbSNP: rs1446389693
NCBI 1000 Genomes Browser:
rs1446389693
Molecular consequence:
  • NM_000255.4:c.654A>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000790504Counsylcriteria provided, single submitter
Likely pathogenic
(Mar 30, 2017)
unknownclinical testing

PubMed (2)
[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

Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency.

Forny P, Froese DS, Suormala T, Yue WW, Baumgartner MR.

Hum Mutat. 2014 Dec;35(12):1449-58. doi: 10.1002/humu.22633.

PubMed [citation]
PMID:
25125334
PMCID:
PMC4441004

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 Counsyl, SCV000790504.1

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

Last Updated: Nov 27, 2021

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