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NM_000071.3(CBS):c.253G>A (p.Gly85Arg) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 25, 2024
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:
RCV000195506.3

Allele description [Variation Report for NM_000071.3(CBS):c.253G>A (p.Gly85Arg)]

NM_000071.3(CBS):c.253G>A (p.Gly85Arg)

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.253G>A (p.Gly85Arg)
Other names:
p.G85R:GGG>AGG
HGVS:
  • NC_000021.9:g.43068572C>T
  • NG_008938.1:g.12359G>A
  • NM_000071.3:c.253G>AMANE SELECT
  • NM_001178008.3:c.253G>A
  • NM_001178009.3:c.253G>A
  • NM_001320298.2:c.253G>A
  • NP_000062.1:p.Gly85Arg
  • NP_000062.1:p.Gly85Arg
  • NP_001171479.1:p.Gly85Arg
  • NP_001171480.1:p.Gly85Arg
  • NP_001307227.1:p.Gly85Arg
  • LRG_777t1:c.253G>A
  • LRG_777:g.12359G>A
  • LRG_777p1:p.Gly85Arg
  • NC_000021.8:g.44488682C>T
  • NM_000071.2:c.253G>A
  • P35520:p.Gly85Arg
Protein change:
G85R
Links:
UniProtKB: P35520#VAR_008051; dbSNP: rs863223435
NCBI 1000 Genomes Browser:
rs863223435
Molecular consequence:
  • NM_000071.3:c.253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178008.3:c.253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178009.3:c.253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320298.2:c.253G>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
SCV000249722GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Jan 25, 2024) 		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, SCV000249722.8

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

Description

Published functional studies demonstrate a damaging effect with this variant resulting no enzymatic activity in vitro (PMID: 12007221); Not observed at significant frequency in large population cohorts (gnomAD); 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: 22267502, 21520339, 14972327, 24211323, 12007221, 10338090, 23981774, 34342182)

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

Last Updated: Sep 29, 2024