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NM_000071.3(CBS):c.700G>A (p.Asp234Asn) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 21, 2022
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:
RCV000199941.13

Allele description [Variation Report for NM_000071.3(CBS):c.700G>A (p.Asp234Asn)]

NM_000071.3(CBS):c.700G>A (p.Asp234Asn)

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.700G>A (p.Asp234Asn)
Other names:
p.D234N:GAC>AAC
HGVS:
  • NC_000021.9:g.43065239C>T
  • NG_008938.1:g.15692G>A
  • NM_000071.3:c.700G>AMANE SELECT
  • NM_001178008.3:c.700G>A
  • NM_001178009.3:c.700G>A
  • NM_001320298.2:c.700G>A
  • NM_001321072.1:c.385G>A
  • NP_000062.1:p.Asp234Asn
  • NP_000062.1:p.Asp234Asn
  • NP_001171479.1:p.Asp234Asn
  • NP_001171480.1:p.Asp234Asn
  • NP_001307227.1:p.Asp234Asn
  • NP_001308001.1:p.Asp129Asn
  • LRG_777t1:c.700G>A
  • LRG_777:g.15692G>A
  • LRG_777p1:p.Asp234Asn
  • NC_000021.8:g.44485349C>T
  • NM_000071.2:c.700G>A
  • P35520:p.Asp234Asn
Protein change:
D129N
Links:
UniProtKB: P35520#VAR_008071; dbSNP: rs773734233
NCBI 1000 Genomes Browser:
rs773734233
Molecular consequence:
  • NM_000071.3:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178008.3:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178009.3:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320298.2:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321072.1:c.385G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000249690GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Mar 21, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000249690.15

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed at significant frequency in large population cohorts (gnomAD); Published functional studies demonstrated that D234N expression in E. coli cells reduces CBS enzyme activity and D234N expression in Hek 293 cells leads to less soluble and fewer properly assembled subunits, suggesting D234N may lead to an unstable protein that is less able to assemble into a functional enzyme (Casique et al., 2014); 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: 10338090, 14972327, 22267502, 20303981, 19914636, 16786517, 23981774)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024