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NM_020631.6(PLEKHG5):c.2145GGA[6] (p.Glu722_Glu723del)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 15, 2021)
Last evaluated:
Dec 7, 2020
Accession:
VCV000194977.6
Variation ID:
194977
Description:
6bp microsatellite
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NM_020631.6(PLEKHG5):c.2145GGA[6] (p.Glu722_Glu723del)

Allele ID
192139
Variant type
Microsatellite
Variant length
6 bp
Cytogenetic location
1p36.31
Genomic location
1: 6469123-6469128 (GRCh38) GRCh38 UCSC
1: 6529183-6529188 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_020631.4:c.2163_2168del
LRG_262:g.55864GGA[6]
NC_000001.10:g.6529185CTC[6]
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:6469122:TCCTCCTCCTCCTCCTCCTCCTCCTC:TCCTCCTCCTCCTCCTCCTC
Functional consequence
-
Global minor allele frequency (GMAF)
0.09724 (TCCTCCTCCTCCTCCTCCTCCTC)

Allele frequency
-
Links
ClinGen: CA201467
dbSNP: rs113541584
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 Mar 31, 2015 RCV000175470.1
Benign 1 criteria provided, single submitter Dec 7, 2020 RCV000544028.3
Benign 1 criteria provided, single submitter Feb 23, 2020 RCV001285935.1
Benign 1 criteria provided, single submitter Mar 3, 2015 RCV001657947.2
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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
669 733

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Feb 23, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001472448.1
Submitted: (Dec 11, 2020)
Evidence details
Benign
(Mar 31, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000226952.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Dec 07, 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: SCV000646020.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001874393.1
Submitted: (Sep 15, 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 rs113541584...

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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 Sep 23, 2021