NM_000255.4(MMUT):c.52C>T (p.Gln18Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Dec 22, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001376600.1

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
  • 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)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001228047Invitaecriteria provided, single submitter
Pathogenic
(Dec 22, 2019)
germlineclinical testing

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

Summary from all submissions

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

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

Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia.

Ledley FD, Jansen R, Nham SU, Fenton WA, Rosenberg LE.

Proc Natl Acad Sci U S A. 1990 Apr;87(8):3147-50.

PubMed [citation]
PMID:
1970180
PMCID:
PMC53851
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV001228047.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Gln18*) in the MUT gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs121918248, ExAC 0.003%). This variant has been observed in individual(s) with methylmalonic aciduria (PMID: 16281286, 1970180). ClinVar contains an entry for this variant (Variation ID: 1877). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in MUT are known to be pathogenic (PMID: 15781192). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Nov 20, 2021

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