NM_001902.6(CTH):c.793C>T (p.Arg265Ter) AND Cystathioninuria

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 18, 2016
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000490299.1

Allele description [Variation Report for NM_001902.6(CTH):c.793C>T (p.Arg265Ter)]

NM_001902.6(CTH):c.793C>T (p.Arg265Ter)

Gene:

CTH:cystathionine gamma-lyase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p31.1

Genomic location:

Preferred name:

NM_001902.6(CTH):c.793C>T (p.Arg265Ter)

HGVS:

NC_000001.11:g.70432151C>T
NG_008041.1:g.25880C>T
NM_001190463.2:c.697C>T
NM_001902.6:c.793C>TMANE SELECT
NM_153742.5:c.661C>T
NP_001177392.1:p.Arg233Ter
NP_001177392.1:p.Arg233Ter
NP_001893.2:p.Arg265Ter
NP_714964.2:p.Arg221Ter
NC_000001.10:g.70897834C>T
NM_001190463.1:c.697C>T

Protein change:

R221*

Links:

dbSNP: rs773107808

NCBI 1000 Genomes Browser:

rs773107808

Molecular consequence:

NM_001190463.2:c.697C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001902.6:c.793C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_153742.5:c.661C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Cystathioninuria
Synonyms:: CYSTATHIONASE DEFICIENCY; Gamma-cystathionase deficiency
Identifiers:: MONDO: MONDO:0009058; MedGen: C0220993; Orphanet: 212; OMIM: 219500; Human Phenotype Ontology: HP:0003153

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000267275	Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 18, 2016)	germline	reference population	PubMed (2) [See all records that cite these PMIDs] 12574942, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000267275

Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 18, 2016)

germline

reference population

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
East Asian	germline	unknown	1	not provided	not provided	not provided	not provided	reference population

Citations

PubMed

Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH).

Wang J, Hegele RA.

Hum Genet. 2003 Apr;112(4):404-8. Epub 2003 Feb 6.

PubMed [citation]

PMID:: 12574942

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 Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center, SCV000267275.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	East Asian	1	not provided	not provided	reference population	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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