NM_000071.3(CBS):c.1039G>A (p.Gly347Ser) AND not provided

Clinical significance:Pathogenic (Last evaluated: Mar 1, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000197584.4

Allele description [Variation Report for NM_000071.3(CBS):c.1039G>A (p.Gly347Ser)]

NM_000071.3(CBS):c.1039G>A (p.Gly347Ser)

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.1039G>A (p.Gly347Ser)
Other names:
p.G347S:GGT>AGT
HGVS:
  • NC_000021.9:g.43062311C>T
  • NG_008938.1:g.18620G>A
  • NM_000071.3:c.1039G>AMANE SELECT
  • NM_001178008.3:c.1039G>A
  • NM_001178009.3:c.1039G>A
  • NM_001320298.2:c.1039G>A
  • NM_001321072.1:c.724G>A
  • NP_000062.1:p.Gly347Ser
  • NP_000062.1:p.Gly347Ser
  • NP_001171479.1:p.Gly347Ser
  • NP_001171480.1:p.Gly347Ser
  • NP_001307227.1:p.Gly347Ser
  • NP_001308001.1:p.Gly242Ser
  • LRG_777t1:c.1039G>A
  • LRG_777:g.18620G>A
  • LRG_777p1:p.Gly347Ser
  • NC_000021.8:g.44482421C>T
  • NM_000071.2:c.1039G>A
Protein change:
G242S
Links:
dbSNP: rs771298943
NCBI 1000 Genomes Browser:
rs771298943
Molecular consequence:
  • NM_000071.3:c.1039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178008.3:c.1039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178009.3:c.1039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320298.2:c.1039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321072.1:c.724G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000249703GeneDxcriteria provided, single submitter
Pathogenic
(Jun 29, 2015)
germlineclinical testing

Citation Link,

SCV001748028CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Mar 1, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000249703.12

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

Description

The G347S mutation in the CBS gene has been reported multiple times in patients with homocystinuria due to CBS deficiency (Gaustadnes et al. 2002; Zschocke et al. 2009; Katsushima et al. 2006; Karaca et al. 2014; Zaidi et al. 2012; Lee et al. 2005). Expression studies found that G347S is associated with very low levels of residual cystathionine beta-synthase enzyme activity compared to wild-type (Gaustadnes et al. 2002; Lee et al. 2005). A patient homozygous for G347S is reported to be vitamin B6 responsive (Katsushima et al. 2006). This variant was found in CBS,TAAD

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001748028.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 4, 2021

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