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NM_052845.4(MMAB):c.87T>A (p.Tyr29Ter) AND Methylmalonic aciduria, cblB type

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 1, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001527444.2

Allele description [Variation Report for NM_052845.4(MMAB):c.87T>A (p.Tyr29Ter)]

NM_052845.4(MMAB):c.87T>A (p.Tyr29Ter)

Genes:
MMAB:metabolism of cobalamin associated B [Gene - OMIM - HGNC]
MVK:mevalonate kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.11
Genomic location:
Preferred name:
NM_052845.4(MMAB):c.87T>A (p.Tyr29Ter)
HGVS:
  • NC_000012.12:g.109573394A>T
  • NG_007096.1:g.5104T>A
  • NG_007702.1:g.4700A>T
  • NM_052845.4:c.87T>AMANE SELECT
  • NP_443077.1:p.Tyr29Ter
  • LRG_156:g.4700A>T
  • NC_000012.11:g.110011199A>T
  • NR_038118.2:n.111T>A
Protein change:
Y29*
Links:
dbSNP: rs2136213423
NCBI 1000 Genomes Browser:
rs2136213423
Molecular consequence:
  • NR_038118.2:n.111T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_052845.4:c.87T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Methylmalonic aciduria, cblB type
Synonyms:
METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE; Methylmalonic acidemia cblB type; Vitamin B12-responsive methylmalonic acidemia type cblB
Identifiers:
MONDO: MONDO:0009614; MedGen: C1855102; Orphanet: 28; Orphanet: 79311; OMIM: 251110

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001738453Baumgartner lab, University Children's Hospital Zurich
no assertion criteria provided
Pathogenic
(Jun 1, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria.

Forny P, Plessl T, Frei C, Bürer C, Froese DS, Baumgartner MR.

Hum Genet. 2022 Jul;141(7):1253-1267. doi: 10.1007/s00439-021-02398-6. Epub 2021 Nov 18.

PubMed [citation]
PMID:
34796408
PMCID:
PMC9262797

Details of each submission

From Baumgartner lab, University Children's Hospital Zurich, SCV001738453.1

#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: Dec 24, 2023