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NM_000071.3(CBS):c.1539C>G (p.His513Gln) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 25, 2017
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:
RCV000424660.1

Allele description [Variation Report for NM_000071.3(CBS):c.1539C>G (p.His513Gln)]

NM_000071.3(CBS):c.1539C>G (p.His513Gln)

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.1539C>G (p.His513Gln)
HGVS:
  • NC_000021.9:g.43056816G>C
  • NG_008938.1:g.24115C>G
  • NM_000071.3:c.1539C>GMANE SELECT
  • NM_001178008.3:c.1539C>G
  • NM_001178009.3:c.1539C>G
  • NM_001320298.2:c.1539C>G
  • NM_001321072.1:c.1224C>G
  • NP_000062.1:p.His513Gln
  • NP_000062.1:p.His513Gln
  • NP_001171479.1:p.His513Gln
  • NP_001171480.1:p.His513Gln
  • NP_001307227.1:p.His513Gln
  • NP_001308001.1:p.His408Gln
  • LRG_777t1:c.1539C>G
  • LRG_777:g.24115C>G
  • LRG_777p1:p.His513Gln
  • NC_000021.8:g.44476926G>C
  • NM_000071.2:c.1539C>G
Protein change:
H408Q
Links:
dbSNP: rs187828882
NCBI 1000 Genomes Browser:
rs187828882
Molecular consequence:
  • NM_000071.3:c.1539C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178008.3:c.1539C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178009.3:c.1539C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320298.2:c.1539C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321072.1:c.1224C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000536498GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jan 25, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000536498.4

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

Description

A variant of uncertain significance has been identified in the CBS gene. The H513Q variant has not been published as pathogenic or been reported as benign to our knowledge. H513Q is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The H513Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Moreover, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Nevertheless, no pathogenic missense variants in nearby residues have been reported in the Human Gene Mutation Database (Stenson et al., 2014), indicating that this region of the gene is not known to harbor disease-causing variants.

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

Last Updated: Apr 23, 2022