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NM_020631.5(PLEKHG5):c.43+14_43+20del

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Sep 13, 2021)
Last evaluated:
Aug 30, 2019
Accession:
VCV000297976.6
Variation ID:
297976
Description:
7bp deletion
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NM_020631.5(PLEKHG5):c.43+14_43+20del

Allele ID
281097
Variant type
Deletion
Variant length
7 bp
Cytogenetic location
1p36.31
Genomic location
1: 6477509-6477515 (GRCh38) GRCh38 UCSC
1: 6537569-6537575 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_262:g.47495_47501del
NC_000001.10:g.6537571_6537577del
NC_000001.11:g.6477511_6477517del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:6477508:CGGCTCCCG:CG
Functional consequence
-
Global minor allele frequency (GMAF)
0.00140 (CG)

Allele frequency
-
Links
ClinGen: CA562029
dbSNP: rs527883968
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 Jun 14, 2016 RCV000326084.2
Likely benign 1 criteria provided, single submitter Aug 30, 2019 RCV001000628.2
Benign 1 criteria provided, single submitter Mar 3, 2015 RCV001642917.2
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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
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Distal Spinal Muscular Atrophy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000358778.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Aug 30, 2019)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001157638.2
Submitted: (Dec 11, 2020)
Evidence details
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001856473.1
Submitted: (Sep 13, 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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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 rs527883968...

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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 29, 2021