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NM_152783.5(D2HGDH):c.1308A>G (p.Gly436=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 29, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000434891.3
Variation ID:
434891
Description:
single nucleotide variant
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NM_152783.5(D2HGDH):c.1308A>G (p.Gly436=)

Allele ID
428039
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q37.3
Genomic location
2: 241767711 (GRCh38) GRCh38 UCSC
2: 242707126 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.242707126A>G
NC_000002.12:g.241767711A>G
NG_012012.1:g.38097A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:241767710:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00280 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00072
The Genome Aggregation Database (gnomAD) 0.00208
Trans-Omics for Precision Medicine (TOPMed) 0.00271
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00269
1000 Genomes Project 0.00280
The Genome Aggregation Database (gnomAD), exomes 0.00063
Links
ClinGen: CA2222199
dbSNP: rs113782371
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Nov 12, 2015 RCV000503223.1
Benign 1 criteria provided, single submitter Dec 31, 2019 RCV000887574.2
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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
Likely benign
(Nov 12, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000594304.1
Submitted: (Jul 05, 2017)
Evidence details
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
D-2-hydroxyglutaric aciduria 1
Allele origin: germline
Invitae
Accession: SCV001031139.2
Submitted: (Jan 29, 2020)
Evidence details

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 rs113782371...

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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