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NM_020631.6(PLEKHG5):c.2576G>A (p.Arg859His)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 10, 2021)
Last evaluated:
Dec 8, 2020
Accession:
VCV000287487.10
Variation ID:
287487
Description:
single nucleotide variant
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NM_020631.6(PLEKHG5):c.2576G>A (p.Arg859His)

Allele ID
271724
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.31
Genomic location
1: 6468260 (GRCh38) GRCh38 UCSC
1: 6528320 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_262:g.56750G>A
NC_000001.10:g.6528320C>T
NC_000001.11:g.6468260C>T
... more HGVS
Protein change
R859H, R928H, R896H
Other names
-
Canonical SPDI
NC_000001.11:6468259:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.02476 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00617
Exome Aggregation Consortium (ExAC) 0.00805
1000 Genomes Project 0.02476
The Genome Aggregation Database (gnomAD) 0.02487
Trans-Omics for Precision Medicine (TOPMed) 0.02597
The Genome Aggregation Database (gnomAD) 0.02621
Trans-Omics for Precision Medicine (TOPMed) 0.02654
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.02458
Links
ClinGen: CA561130
dbSNP: rs61737997
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000300757.2
Benign 1 criteria provided, single submitter May 13, 2016 RCV000365803.1
Benign 1 criteria provided, single submitter Dec 8, 2020 RCV000553106.5
Benign 1 criteria provided, single submitter Mar 13, 2020 RCV001287708.2
Benign 1 criteria provided, single submitter Mar 3, 2015 RCV001636847.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PLEKHG5 - - GRCh38
GRCh37
671 739

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(May 13, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000341271.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Distal spinal muscular atrophy, autosomal recessive 4
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000358726.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Mar 13, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001474422.1
Submitted: (Dec 11, 2020)
Evidence details
Benign
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
Distal spinal muscular atrophy, autosomal recessive 4
Charcot-Marie-Tooth disease, recessive intermediate c
Allele origin: germline
Invitae
Accession: SCV000646035.5
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001849095.1
Submitted: (Sep 10, 2021)
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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=PLEKHG5 - - - -

Text-mined citations for rs61737997...

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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 Nov 27, 2021