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NM_020631.6(PLEKHG5):c.38del (p.Pro13fs)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Oct 3, 2014)
Last evaluated:
Oct 15, 2013
Accession:
VCV000060777.1
Variation ID:
60777
Description:
1bp deletion
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NM_020631.6(PLEKHG5):c.38del (p.Pro13fs)

Allele ID
75316
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
1p36.31
Genomic location
1: 6477534 (GRCh38) GRCh38 UCSC
1: 6537594 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.6537598del
NC_000001.11:g.6477538del
NG_007978.1:g.47476del
... more HGVS
Protein change
P13fs, P82fs, P90fs, P50fs
Other names
-
Canonical SPDI
NC_000001.11:6477533:GGGGG:GGGG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA144674
OMIM: 611101.0002
dbSNP: rs397515454
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Oct 15, 2013 RCV000054544.4
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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
Pathogenic
(Oct 15, 2013)
no assertion criteria provided
Method: literature only
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C
Allele origin: germline
OMIM
Accession: SCV000083022.3
Submitted: (Oct 03, 2014)
Evidence details
Publications
PubMed (1)

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
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. Azzedine H Human molecular genetics 2013 PMID: 23777631

Text-mined citations for rs397515454...

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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