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NM_052845.4(MMAB):c.563T>G (p.Val188Gly) AND Methylmalonic aciduria, cblB type

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 18, 2014
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:
RCV000210838.2

Allele description [Variation Report for NM_052845.4(MMAB):c.563T>G (p.Val188Gly)]

NM_052845.4(MMAB):c.563T>G (p.Val188Gly)

Gene:
MMAB:metabolism of cobalamin associated B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.11
Genomic location:
Preferred name:
NM_052845.4(MMAB):c.563T>G (p.Val188Gly)
HGVS:
  • NC_000012.12:g.109561061A>C
  • NG_007096.1:g.17437T>G
  • NM_052845.4:c.563T>GMANE SELECT
  • NP_443077.1:p.Val188Gly
  • NC_000012.11:g.109998866A>C
  • NM_052845.3:c.563T>G
  • NR_038118.2:n.674T>G
  • p.V188G
Protein change:
V188G
Links:
dbSNP: rs869320654
NCBI 1000 Genomes Browser:
rs869320654
Molecular consequence:
  • NM_052845.4:c.563T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_038118.2:n.674T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000267128Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital - ORGANIC ACIDURIAS
no assertion criteria provided
Pathogenic
(May 18, 2014) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedresearch

Details of each submission

From Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital - ORGANIC ACIDURIAS, SCV000267128.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided

Description

Mutation was checked in 100 normal control and was found pathogenic by polyphen2, panther, sift, mutation taster

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 26, 2023