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NM_020631.6(PLEKHG5):c.1469A>T (p.Lys490Met)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 17, 2019
Accession:
VCV000943959.2
Variation ID:
943959
Description:
single nucleotide variant
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NM_020631.6(PLEKHG5):c.1469A>T (p.Lys490Met)

Allele ID
922150
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.31
Genomic location
1: 6470808 (GRCh38) GRCh38 UCSC
1: 6530868 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.6530868T>A
NC_000001.11:g.6470808T>A
NM_020631.6:c.1469A>T MANE Select NP_065682.2:p.Lys490Met missense
... more HGVS
Protein change
K527M, K559M, K490M
Other names
-
Canonical SPDI
NC_000001.11:6470807:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Apr 17, 2019 RCV001214250.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Apr 17, 2019)
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: SCV001385923.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces lysine with methionine at codon 490 of the PLEKHG5 protein (p.Lys490Met). The lysine 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.

Record last updated Jun 14, 2021