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NM_020631.6(PLEKHG5):c.2564C>T (p.Ser855Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 12, 2020
Accession:
VCV000195528.3
Variation ID:
195528
Description:
single nucleotide variant
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NM_020631.6(PLEKHG5):c.2564C>T (p.Ser855Leu)

Allele ID
192689
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.31
Genomic location
1: 6468272 (GRCh38) GRCh38 UCSC
1: 6528332 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.6528332G>A
LRG_262:g.56738C>T
NC_000001.11:g.6468272G>A
... more HGVS
Protein change
S855L, S924L, S892L
Other names
-
Canonical SPDI
NC_000001.11:6468271:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Exome Aggregation Consortium (ExAC) 0.00004
The Genome Aggregation Database (gnomAD), exomes 0.00004
Links
ClinGen: CA241980
dbSNP: rs768995193
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 14, 2015 RCV000176113.1
Uncertain significance 1 criteria provided, single submitter Oct 12, 2020 RCV000645441.4
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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 14, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000227714.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Oct 12, 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: SCV000767186.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces serine with leucine at codon 855 of the PLEKHG5 protein (p.Ser855Leu). The serine 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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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=PLEKHG5 - - - -

Text-mined citations for rs768995193...

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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 30, 2021