NM_000071.2(CBS):c.434C>T (p.Pro145Leu) AND Homocystinuria

Clinical significance:Likely pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001250193.1

Allele description [Variation Report for NM_000071.2(CBS):c.434C>T (p.Pro145Leu)]

NM_000071.2(CBS):c.434C>T (p.Pro145Leu)

Gene:
CBS:cystathionine beta-synthase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_000071.2(CBS):c.434C>T (p.Pro145Leu)
HGVS:
  • NC_000021.9:g.43066260G>A
  • NG_008938.1:g.14671C>T
  • NM_000071.2:c.434C>T
  • NM_001178008.2:c.434C>T
  • NM_001178009.3:c.434C>T
  • NM_001320298.1:c.434C>T
  • NM_001321072.1:c.119C>T
  • NP_000062.1:p.Pro145Leu
  • NP_001171479.1:p.Pro145Leu
  • NP_001171480.1:p.Pro145Leu
  • NP_001307227.1:p.Pro145Leu
  • NP_001308001.1:p.Pro40Leu
  • LRG_777t1:c.434C>T
  • LRG_777:g.14671C>T
  • LRG_777p1:p.Pro145Leu
  • NC_000021.8:g.44486370G>A
  • P35520:p.Pro145Leu
Protein change:
P145L; PRO145LEU
Links:
UniProtKB: P35520#VAR_002178; OMIM: 613381.0002; dbSNP: rs121964963
NCBI 1000 Genomes Browser:
rs121964963
Molecular consequence:
  • NM_000071.2:c.434C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178008.2:c.434C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178009.3:c.434C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320298.1:c.434C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321072.1:c.119C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Homocystinuria
Synonyms:
High urine homocystine levels
Identifiers:
MONDO: MONDO:0004737; MedGen: C0019880; Human Phenotype Ontology: HP:0002156

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001424384Centogene AG - the Rare Disease Companycriteria provided, single submitter
Likely pathogenicgermlineclinical 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

Citations

PubMed

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 Centogene AG - the Rare Disease Company, SCV001424384.1

#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: Oct 7, 2021

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