NM_000071.3(CBS):c.374G>A (p.Arg125Gln) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: May 3, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000723426.5

Allele description [Variation Report for NM_000071.3(CBS):c.374G>A (p.Arg125Gln)]

NM_000071.3(CBS):c.374G>A (p.Arg125Gln)

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.374G>A (p.Arg125Gln)

HGVS:

NC_000021.9:g.43066320C>T
NG_008938.1:g.14611G>A
NM_000071.3:c.374G>AMANE SELECT
NM_001178008.3:c.374G>A
NM_001178009.3:c.374G>A
NM_001320298.2:c.374G>A
NM_001321072.1:c.59G>A
NP_000062.1:p.Arg125Gln
NP_000062.1:p.Arg125Gln
NP_001171479.1:p.Arg125Gln
NP_001171480.1:p.Arg125Gln
NP_001307227.1:p.Arg125Gln
NP_001308001.1:p.Arg20Gln
LRG_777t1:c.374G>A
LRG_777:g.14611G>A
LRG_777p1:p.Arg125Gln
NC_000021.8:g.44486430C>T
NM_000071.2:c.374G>A
P35520:p.Arg125Gln

Protein change:

R125Q

Links:

UniProtKB: P35520#VAR_002175; dbSNP: rs781444670

NCBI 1000 Genomes Browser:

rs781444670

Molecular consequence:

NM_000071.3:c.374G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001178008.3:c.374G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001178009.3:c.374G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001320298.2:c.374G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001321072.1:c.59G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000230842	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Nov 20, 2014)	germline	clinical testing	Citation Link,
SCV004227692	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 3, 2023)	germline	clinical testing	PubMed (12) [See all records that cite these PMIDs] 10338090, 12124992, 14722927, 18423051, 20308073, 20506325, 21520339, 22612060, 25331909, 7762555, 7849717, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000230842

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Nov 20, 2014)

germline

clinical testing

Citation Link,

SCV004227692

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 3, 2023)

germline

clinical testing

PubMed (12)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	3	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Cystathionine beta-synthase mutations in homocystinuria.

Kraus JP, Janosík M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, de Franchis R, Andria G, Kluijtmans LA, Blom H, Boers GH, Gordon RB, Kamoun P, Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M.

Hum Mutat. 1999;13(5):362-75. Review.

PubMed [citation]

PMID:: 10338090

The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.

Gaustadnes M, Wilcken B, Oliveriusova J, McGill J, Fletcher J, Kraus JP, Wilcken DE.

Hum Mutat. 2002 Aug;20(2):117-26.

PubMed [citation]

PMID:: 12124992

See all PubMed Citations (12)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000230842.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

#	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		2	not provided	not provided	not provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV004227692.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (12)

Description

PP3, PM1, PM2_supporting, PM3_strong, PS3, PS4

#	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: Sep 29, 2024

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