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NM_020631.5(PLEKHG5):c.551G>A (p.Arg184His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: May 26, 2021)
Last evaluated:
Mar 11, 2020
Accession:
VCV000246293.3
Variation ID:
246293
Description:
single nucleotide variant
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NM_020631.5(PLEKHG5):c.551G>A (p.Arg184His)

Allele ID
244286
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.31
Genomic location
1: 6474053 (GRCh38) GRCh38 UCSC
1: 6534113 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.6534113C>T
NC_000001.11:g.6474053C>T
NM_001042664.1:c.551G>A NP_001036129.1:p.Arg184His missense
... more HGVS
Protein change
R184H, R240H, R261H, R263H, R253H
Other names
-
Canonical SPDI
NC_000001.11:6474052:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA561812
dbSNP: rs750080171
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Mar 11, 2020 RCV000236140.2
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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
(Jan 08, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000293783.10
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The R184H variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was … (more)
Uncertain significance
(Mar 11, 2020)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001713779.1
Submitted: (May 26, 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 rs750080171...

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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 Jun 14, 2021