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NM_003477.3(PDHX):c.566G>A (p.Arg189His)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 29, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000138661.4
Variation ID:
138661
Description:
single nucleotide variant
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NM_003477.3(PDHX):c.566G>A (p.Arg189His)

Allele ID
142364
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p13
Genomic location
11: 34960443 (GRCh38) GRCh38 UCSC
11: 34981990 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.34960443G>A
NC_000011.9:g.34981990G>A
NG_013368.1:g.49314G>A
... more HGVS
Protein change
R189H, R129H
Other names
p.R189H:CGC>CAC
Canonical SPDI
NC_000011.10:34960442:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00739 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00562
Trans-Omics for Precision Medicine (TOPMed) 0.00606
1000 Genomes Project 0.00739
The Genome Aggregation Database (gnomAD) 0.00612
Links
ClinGen: CA292745
dbSNP: rs61752925
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Dec 31, 2019 RCV000422923.4
Benign 1 criteria provided, single submitter May 24, 2013 RCV000127415.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PDHX - - GRCh38
GRCh37
186 226

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(May 24, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000170978.11
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Dec 30, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000511683.1
Submitted: (Feb 17, 2017)
Evidence details
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001106093.2
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 rs61752925...

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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 24, 2021