Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_020631.5(PLEKHG5):c.2848G>T (p.Ala950Ser)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2019)
Last evaluated:
Feb 9, 2016
Accession:
VCV000246359.2
Variation ID:
246359
Description:
single nucleotide variant
Help

NM_020631.5(PLEKHG5):c.2848G>T (p.Ala950Ser)

Allele ID
244277
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.31
Genomic location
1: 6467988 (GRCh38) GRCh38 UCSC
1: 6528048 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_262:g.57022G>T
NC_000001.10:g.6528048C>A
NC_000001.11:g.6467988C>A
... more HGVS
Protein change
A950S, A1027S, A1006S, A1029S, A1019S
Other names
-
Canonical SPDI
NC_000001.11:6467987:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10584152
dbSNP: rs879254222
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Feb 9, 2016 RCV000236991.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 09, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000293876.9
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The A950S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was … (more)

Functional evidence

Help
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

Help
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 rs879254222...

Help
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 Feb 27, 2021