NM_000255.3(MUT):c.322C>T AND METHYLMALONIC ACIDURIA, mut(0) TYPE

Clinical significance:Pathogenic (Last evaluated: Apr 6, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000001964.2

Allele description [Variation Report for NM_000255.3(MUT):c.322C>T]

NM_000255.3(MUT):c.322C>T (p.Arg108Cys)

Gene:
MUT:methylmalonyl-CoA mutase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p12.3
Genomic location:
Preferred name:
NM_000255.3(MUT):c.322C>T (p.Arg108Cys)
HGVS:
  • NC_000006.12:g.49459145G>A
  • NG_007100.1:g.8995C>T
  • NM_000255.3:c.322C>T
  • NP_000246.2:p.Arg108Cys
  • NC_000006.11:g.49426858G>A
  • NM_000255.1:c.322C>T
  • NP_000246.1:p.Arg108Cys
  • P22033:p.Arg108Cys
Protein change:
R108C; ARG108CYS
Links:
UniProtKB: P22033#VAR_026596; OMIM: 609058.0011; dbSNP: rs121918257
GMAF:
0.0002(A), 121918257
NCBI 1000 Genomes Browser:
rs121918257
Allele Frequency:
0.00008(A)
Molecular consequence:
  • NM_000255.3:c.322C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
METHYLMALONIC ACIDURIA, mut(0) TYPE
Identifiers:
MedGen: C1855115

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000022122OMIMno assertion criteria providedPathogenic
(Jan 1, 2006)
germlineliterature only

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

SCV000595872Genetic Services Laboratory, University of Chicagocriteria provided, single submitter
Pathogenic
(Apr 6, 2016)
germlineclinical testing

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

Summary from all submissions

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From OMIM, SCV000022122.1

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

Description

In a screen of the MUT gene in 160 patients with mut MMA (251000), Worgan et al. (2006) found a novel mutation in exon 2, 322C-T (arg108 to cys, R108C), in 16 of 27 Hispanic patients. SNP phenotyping data demonstrated that Hispanic patients with this mutation shared a common haplotype.

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

From Genetic Services Laboratory, University of Chicago, SCV000595872.1

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

Last Updated: Jul 21, 2018