NM_000071.3(CBS):c.430G>A (p.Glu144Lys) AND not provided

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Jul 26, 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:: RCV000723427.31

Allele description [Variation Report for NM_000071.3(CBS):c.430G>A (p.Glu144Lys)]

NM_000071.3(CBS):c.430G>A (p.Glu144Lys)

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.430G>A (p.Glu144Lys)

HGVS:

NC_000021.9:g.43066264C>T
NG_008938.1:g.14667G>A
NM_000071.3:c.430G>AMANE SELECT
NM_001178008.3:c.430G>A
NM_001178009.3:c.430G>A
NM_001320298.2:c.430G>A
NM_001321072.1:c.115G>A
NP_000062.1:p.Glu144Lys
NP_000062.1:p.Glu144Lys
NP_001171479.1:p.Glu144Lys
NP_001171480.1:p.Glu144Lys
NP_001307227.1:p.Glu144Lys
NP_001308001.1:p.Glu39Lys
LRG_777t1:c.430G>A
LRG_777:g.14667G>A
LRG_777p1:p.Glu144Lys
NC_000021.8:g.44486374C>T
NM_000071.2:c.430G>A
P35520:p.Glu144Lys

Protein change:

E144K; GLU144LYS

Links:

UniProtKB: P35520#VAR_002177; OMIM: 613381.0006; dbSNP: rs121964966

NCBI 1000 Genomes Browser:

rs121964966

Molecular consequence:

NM_000071.3:c.430G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001178008.3:c.430G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001178009.3:c.430G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001320298.2:c.430G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001321072.1:c.115G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000331006	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Nov 18, 2015)	germline	clinical testing	Citation Link,
SCV001246795	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Aug 1, 2018)	germline	clinical testing	Citation Link,
SCV001480070	Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 1, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001757529	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jul 26, 2023)	germline	clinical testing	Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical testing
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical 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 Eurofins Ntd Llc (ga), SCV000331006.4

#	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 CeGaT Center for Human Genetics Tuebingen, SCV001246795.26

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

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV001480070.1

#	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 GeneDx, SCV001757529.2

#	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 demonstrate a damaging effect through decreased enzyme levels (Kozich et al., 2010); 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: 15365998, 14722927, 22267502, 9156316, 31301157, 7611293, 11748855, 11359213, 25331909, 12124992, 20567906, 10215408, 20506325, 33057012)

#	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

Last Updated: Nov 10, 2024

ClinVar

Relating variation to medicine