NM_000071.3(CBS):c.341C>T (p.Ala114Val) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic/Likely pathogenic (4 submissions)
Last evaluated:: Feb 14, 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:: RCV000200823.12

Allele description

NM_000071.3(CBS):c.341C>T (p.Ala114Val)

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.341C>T (p.Ala114Val)

Other names:

p.A114V:GCG>GTG

HGVS:

NC_000021.9:g.43066353G>A
NG_008938.1:g.14578C>T
NM_000071.3:c.341C>TMANE SELECT
NM_001178008.3:c.341C>T
NM_001178009.3:c.341C>T
NM_001320298.2:c.341C>T
NM_001321072.1:c.26C>T
NP_000062.1:p.Ala114Val
NP_000062.1:p.Ala114Val
NP_001171479.1:p.Ala114Val
NP_001171480.1:p.Ala114Val
NP_001307227.1:p.Ala114Val
NP_001308001.1:p.Ala9Val
LRG_777t1:c.341C>T
LRG_777:g.14578C>T
LRG_777p1:p.Ala114Val
NC_000021.8:g.44486463G>A
NM_000071.2:c.341C>T
P35520:p.Ala114Val

Protein change:

A114V; ALA114VAL

Links:

UniProtKB: P35520#VAR_002174; OMIM: 613381.0003; dbSNP: rs121964964

NCBI 1000 Genomes Browser:

rs121964964

Molecular consequence:

NM_000071.3:c.341C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001178008.3:c.341C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001178009.3:c.341C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001320298.2:c.341C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001321072.1:c.26C>T - 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
SCV000249676	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Jan 14, 2022)	germline	clinical testing	Citation Link,
SCV001448148	Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 23, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001713878	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 21, 2020)	germline	clinical testing	PubMed (18) [See all records that cite these PMIDs] 8353501, 7762555, 10408774, 10338090, 14739681, 16479318, 17069888, 16307898, 20506325, 20490928, 22267502, 22069143, 22612060, 25087612, 27959664, 28097321, 32232970, 25741868
SCV004026264	Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 14, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Molecular defect in a patient with pyridoxine-responsive homocystinuria.

Kozich V, de Franchis R, Kraus JP.

Hum Mol Genet. 1993 Jun;2(6):815-6. No abstract available.

PubMed [citation]

PMID:: 8353501

The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.

Sebastio G, Sperandeo MP, Panico M, de Franchis R, Kraus JP, Andria G.

Am J Hum Genet. 1995 Jun;56(6):1324-33.

PubMed [citation]

PMID:: 7762555
PMCID:: PMC1801112

See all PubMed Citations (18)

Details of each submission

From GeneDx, SCV000249676.16

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

Description

Published functional studies have shown A114V leads to protein misfolding and instability compared to wild-type alleles (Kozich et al., 2010; Hznida et al., 2012); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22612060, 7967489, 22267502, 22985361, 25331909, 22069143, 20308073, 14722927, 10408774, 8353501, 28097321, 25087612, 12686134, 20506325, 20490928, 11748855, 20066033, 16307898, 16479318, 7762555, 31589614, 11359213)

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

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV001448148.1

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

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

From Mayo Clinic Laboratories, Mayo Clinic, SCV001713878.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (18)

Description

PS3, PS4_moderate, PM3_verystrong, PP3, PP4

#	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

From Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden, SCV004026264.1

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

Description

PM3, PS3, PP3, PS4, PM2_SUP

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

Last Updated: Jun 17, 2024

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