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NM_152783.5(D2HGDH):c.659A>G (p.His220Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Feb 21, 2021)
Last evaluated:
Feb 17, 2020
Accession:
VCV000662655.2
Variation ID:
662655
Description:
single nucleotide variant
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NM_152783.5(D2HGDH):c.659A>G (p.His220Arg)

Allele ID
629747
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q37.3
Genomic location
2: 241743790 (GRCh38) GRCh38 UCSC
2: 242683205 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.242683205A>G
NC_000002.12:g.241743790A>G
NG_012012.1:g.14176A>G
... more HGVS
Protein change
H86R, H33R, H220R
Other names
-
Canonical SPDI
NC_000002.12:241743789:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00009
The Genome Aggregation Database (gnomAD) 0.00010
The Genome Aggregation Database (gnomAD), exomes 0.00004
1000 Genomes Project 0.00040
Trans-Omics for Precision Medicine (TOPMed) 0.00014
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
dbSNP: rs112424377
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Feb 17, 2020 RCV000820346.2
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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

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 14, 2018)
criteria provided, single submitter
Method: clinical testing
D-2-hydroxyglutaric aciduria 1
Allele origin: germline
Invitae
Accession: SCV000961055.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces histidine with arginine at codon 220 of the D2HGDH protein (p.His220Arg). The histidine residue is moderately conserved and there is a … (more)
Uncertain significance
(Feb 17, 2020)
criteria provided, single submitter
Method: clinical testing
D-2-hydroxyglutaric aciduria 1
Allele origin: unknown
Baylor Genetics
Accession: SCV001519861.1
Submitted: (Feb 21, 2021)
Evidence details
Comment:
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

Functional evidence

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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

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs112424377...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021