Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_152783.5(D2HGDH):c.515G>A (p.Cys172Tyr)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 28, 2019
Accession:
VCV000857572.2
Variation ID:
857572
Description:
single nucleotide variant
Help

NM_152783.5(D2HGDH):c.515G>A (p.Cys172Tyr)

Allele ID
826110
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q37.3
Genomic location
2: 241743646 (GRCh38) GRCh38 UCSC
2: 242683061 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.242683061G>A
NC_000002.12:g.241743646G>A
NG_012012.1:g.14032G>A
... more HGVS
Protein change
C38Y, C172Y
Other names
-
Canonical SPDI
NC_000002.12:241743645:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Mar 28, 2019 RCV001063278.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
D2HGDH - - GRCh38
GRCh37
217 330

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 28, 2019)
criteria provided, single submitter
Method: clinical testing
D-2-hydroxyglutaric aciduria 1
Allele origin: germline
Invitae
Accession: SCV001228116.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces cysteine with tyrosine at codon 172 of the D2HGDH protein (p.Cys172Tyr). The cysteine residue is highly conserved and there is a … (more)

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria. Kranendijk M Human mutation 2010 PMID: 20020533

Record last updated Oct 08, 2021