NM_000255.4(MMUT):c.52C>T (p.Gln18Ter) AND Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Clinical significance:Likely pathogenic (Last evaluated: Jul 14, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000203362.4

Allele description [Variation Report for NM_000255.4(MMUT):c.52C>T (p.Gln18Ter)]

NM_000255.4(MMUT):c.52C>T (p.Gln18Ter)

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.52C>T (p.Gln18Ter)
Other names:
Q17*
HGVS:
  • NC_000006.12:g.49459415G>A
  • NG_007100.1:g.8725C>T
  • NM_000255.4:c.52C>TMANE SELECT
  • NP_000246.2:p.Gln18Ter
  • NC_000006.11:g.49427128G>A
  • NM_000255.1:c.52C>T
  • NM_000255.3:c.52C>T
  • NP_000246.1:p.Gln18Ter
Protein change:
Q18*; GLN17TER
Links:
OMIM: 609058.0001; dbSNP: rs121918248
NCBI 1000 Genomes Browser:
rs121918248
Molecular consequence:
  • NM_000255.4:c.52C>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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000258490GeneReviewsno assertion criteria providedPathogenic
(Dec 1, 2016)
germlineliterature only

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

Citation Link,

SCV000792798Counsylcriteria provided, single submitter
Likely pathogenic
(Jul 14, 2017)
unknownclinical testing

PubMed (3)
[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
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.

Worgan LC, Niles K, Tirone JC, Hofmann A, Verner A, Sammak A, Kucic T, Lepage P, Rosenblatt DS.

Hum Mutat. 2006 Jan;27(1):31-43.

PubMed [citation]
PMID:
16281286

Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a mutation interfering with mitochondrial import.

Fenton WA, Hack AM, Kraus JP, Rosenberg LE.

Proc Natl Acad Sci U S A. 1987 Mar;84(5):1421-4.

PubMed [citation]
PMID:
2881300
PMCID:
PMC304442
See all PubMed Citations (3)

Details of each submission

From GeneReviews, SCV000258490.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

mut(0) enzymatic subtype when homozygous

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Counsyl, SCV000792798.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

Support Center