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NM_000071.3(CBS):c.770C>T (p.Thr257Met) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 16, 2020
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:
RCV000197988.2

Allele description [Variation Report for NM_000071.3(CBS):c.770C>T (p.Thr257Met)]

NM_000071.3(CBS):c.770C>T (p.Thr257Met)

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.770C>T (p.Thr257Met)
Other names:
p.T257M:ACG>ATG
HGVS:
  • NC_000021.9:g.43063958G>A
  • NG_008938.1:g.16973C>T
  • NM_000071.3:c.770C>TMANE SELECT
  • NM_001178008.3:c.770C>T
  • NM_001178009.3:c.770C>T
  • NM_001320298.2:c.770C>T
  • NM_001321072.1:c.455C>T
  • NP_000062.1:p.Thr257Met
  • NP_000062.1:p.Thr257Met
  • NP_001171479.1:p.Thr257Met
  • NP_001171480.1:p.Thr257Met
  • NP_001307227.1:p.Thr257Met
  • NP_001308001.1:p.Thr152Met
  • LRG_777t1:c.770C>T
  • LRG_777:g.16973C>T
  • LRG_777p1:p.Thr257Met
  • NC_000021.8:g.44484068G>A
  • NM_000071.2:c.770C>T
  • P35520:p.Thr257Met
Protein change:
T152M
Links:
UniProtKB: P35520#VAR_002183; dbSNP: rs758236584
NCBI 1000 Genomes Browser:
rs758236584
Molecular consequence:
  • NM_000071.3:c.770C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178008.3:c.770C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178009.3:c.770C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320298.2:c.770C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321072.1:c.455C>T - 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
SCV000249729GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Oct 16, 2020) 		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, SCV000249729.11

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

Description

Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Reported in ClinVar but additional evidence is not available (ClinVar Variant ID #188927; Landrum et al., 2016); In vitro functional studies show a marked decrease in CBS enzymatic activity (Sebastio et al., 1995; Lee et al., 2005; Yadav 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: 22977242, 21517828, 22267502, 7762555, 29600437, 29508359, 16205833, 23685761, 7967489, 16479318, 31589614)

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

Last Updated: Sep 29, 2024