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NM_000071.3(CBS):c.572C>T (p.Thr191Met) AND Homocystinuria, pyridoxine-nonresponsive

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2006
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:
RCV000000155.2

Allele description [Variation Report for NM_000071.3(CBS):c.572C>T (p.Thr191Met)]

NM_000071.3(CBS):c.572C>T (p.Thr191Met)

Gene:
CBS:cystathionine beta-synthase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_000071.3(CBS):c.572C>T (p.Thr191Met)
Other names:
p.T191M:ACG>ATG
HGVS:
  • NC_000021.9:g.43065481G>A
  • NG_008938.1:g.15450C>T
  • NM_000071.3:c.572C>TMANE SELECT
  • NM_001178008.3:c.572C>T
  • NM_001178009.3:c.572C>T
  • NM_001320298.2:c.572C>T
  • NM_001321072.1:c.257C>T
  • NP_000062.1:p.Thr191Met
  • NP_000062.1:p.Thr191Met
  • NP_001171479.1:p.Thr191Met
  • NP_001171480.1:p.Thr191Met
  • NP_001307227.1:p.Thr191Met
  • NP_001308001.1:p.Thr86Met
  • LRG_777t1:c.572C>T
  • LRG_777:g.15450C>T
  • LRG_777p1:p.Thr191Met
  • NC_000021.8:g.44485591G>A
  • NM_000071.2:c.572C>T
  • P35520:p.Thr191Met
Protein change:
T191M; THR191MET
Links:
UniProtKB: P35520#VAR_008068; OMIM: 613381.0016; dbSNP: rs121964973
NCBI 1000 Genomes Browser:
rs121964973
Molecular consequence:
  • NM_000071.3:c.572C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178008.3:c.572C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178009.3:c.572C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320298.2:c.572C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321072.1:c.257C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Homocystinuria, pyridoxine-nonresponsive
Identifiers:
MedGen: C4017308

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000020298OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 2006) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.

Urreizti R, Asteggiano C, Bermudez M, Córdoba A, Szlago M, Grosso C, de Kremer RD, Vilarinho L, D'Almeida V, Martínez-Pardo M, Peña-Quintana L, Dalmau J, Bernal J, Briceño I, Couce ML, Rodés M, Vilaseca MA, Balcells S, Grinberg D.

J Hum Genet. 2006;51(4):305-313. doi: 10.1007/s10038-006-0362-0. Epub 2006 Feb 15. Erratum in: J Hum Genet. 2007;52(4):388-9. Szlago, Mariana [corrected to Szlago, Marina]. J Hum Genet. 2007 Apr;52(4):388-389. doi: 10.1007/s10038-006-0103-4.

PubMed [citation]
PMID:
16479318

Details of each submission

From OMIM, SCV000020298.1

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

Description

Among 35 patients from 30 pedigrees with homocystinuria (236200) from the Iberian peninsula and several South American countries, Urreizti et al. (2006) found a high frequency of a 572C-T transition in the CBS gene, resulting in a thr191-to-met (T191M) substitution. The patients were from Spain, Portugal, Colombia, and Argentina. Combined with previously reported studies, the prevalence of T191M among mutant CBS alleles in different countries was 0.75 in Colombia, 0.52 in Spain, 0.33 in Portugal, 0.25 in Venezuela, 0.20 in Argentina, and 0.14 in Brazil. Haplotype analysis suggested a double origin for this mutation. The phenotype was B6-nonresponsive.

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

Last Updated: Nov 24, 2024