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NM_020631.6(PLEKHG5):c.1379G>A (p.Arg460Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 5, 2017)
Last evaluated:
Jul 25, 2017
Accession:
VCV000468893.1
Variation ID:
468893
Description:
single nucleotide variant
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NM_020631.6(PLEKHG5):c.1379G>A (p.Arg460Gln)

Allele ID
448409
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.31
Genomic location
1: 6471003 (GRCh38) GRCh38 UCSC
1: 6531063 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_262:g.54007G>A
NC_000001.10:g.6531063C>T
NC_000001.11:g.6471003C>T
... more HGVS
Protein change
R460Q, R529Q, R497Q
Other names
-
Canonical SPDI
NC_000001.11:6471002:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA338127487
dbSNP: rs1309731055
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jul 25, 2017 RCV000556509.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PLEKHG5 - - GRCh38
GRCh37
675 739

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 25, 2017)
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: SCV000646004.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change replaces arginine with glutamine at codon 460 of the PLEKHG5 protein (p.Arg460Gln). The arginine residue is moderately conserved and there is a … (more)

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 rs1309731055...

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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