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NM_000071.3(CBS):c.992C>A (p.Ala331Glu) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 31, 2019
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:
RCV000199169.11

Allele description [Variation Report for NM_000071.3(CBS):c.992C>A (p.Ala331Glu)]

NM_000071.3(CBS):c.992C>A (p.Ala331Glu)

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.992C>A (p.Ala331Glu)
Other names:
p.A331E:GCG>GAG
HGVS:
  • NC_000021.9:g.43062358G>T
  • NG_008938.1:g.18573C>A
  • NM_000071.3:c.992C>AMANE SELECT
  • NM_001178008.3:c.992C>A
  • NM_001178009.3:c.992C>A
  • NM_001320298.2:c.992C>A
  • NM_001321072.1:c.677C>A
  • NP_000062.1:p.Ala331Glu
  • NP_000062.1:p.Ala331Glu
  • NP_001171479.1:p.Ala331Glu
  • NP_001171480.1:p.Ala331Glu
  • NP_001307227.1:p.Ala331Glu
  • NP_001308001.1:p.Ala226Glu
  • LRG_777t1:c.992C>A
  • LRG_777:g.18573C>A
  • LRG_777p1:p.Ala331Glu
  • NC_000021.8:g.44482468G>T
  • NM_000071.2:c.992C>A
  • P35520:p.Ala331Glu
Protein change:
A226E
Links:
UniProtKB: P35520#VAR_008079; dbSNP: rs777919630
NCBI 1000 Genomes Browser:
rs777919630
Molecular consequence:
  • NM_000071.3:c.992C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178008.3:c.992C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178009.3:c.992C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320298.2:c.992C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321072.1:c.677C>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
SCV000249698GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Dec 31, 2019) 		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, SCV000249698.13

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

Description

Reported in a patient with homocystinuria who also harbors a frameshift variant in the CBS gene (Dawson et al., 1997; Gaustadnes et al., 2002); Reported in ClinVar as a likely pathogenic variant (ClinVar Variant ID# 212857; Landrum et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Published functional studies demonstrate a damaging effect on protein function (Mayfield et al., 2012); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 12124992, 12686134, 22267502, 9156316, 31301157)

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

Last Updated: Nov 24, 2024