PLEKHG7

pleckstrin homology and RhoGEF domain containing G7, the group of Pleckstrin homology domain containing|Dbl family Rho GEFs

Basic information

Region (hg38): 12:92702843-92772455

Previous symbols: [ "C12orf74" ]

Links

ENSG00000187510NCBI:440107HGNC:33829Uniprot:Q6ZR37AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PLEKHG7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PLEKHG7 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
1
clinvar
1
clinvar
2
missense
24
clinvar
1
clinvar
1
clinvar
26
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 24 2 2

Variants in PLEKHG7

This is a list of pathogenic ClinVar variants found in the PLEKHG7 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
12-92706717-A-G Benign (Jul 23, 2018)719749
12-92706817-G-A Benign (Jul 23, 2018)784252
12-92740884-C-T not specified Uncertain significance (Jul 08, 2022)2300275
12-92741540-T-C not specified Uncertain significance (Jul 14, 2021)2345687
12-92741581-G-A not specified Uncertain significance (Aug 15, 2023)2597300
12-92745479-A-G not specified Uncertain significance (May 30, 2024)3307630
12-92745575-T-G not specified Uncertain significance (Mar 07, 2025)3890363
12-92754108-C-A not specified Uncertain significance (Apr 06, 2024)3307624
12-92754109-A-C not specified Uncertain significance (Aug 02, 2021)2240456
12-92754126-G-T not specified Likely benign (Jan 16, 2025)3890361
12-92754154-A-G not specified Uncertain significance (Aug 20, 2024)3420588
12-92754217-A-G not specified Uncertain significance (Jun 22, 2023)2605811
12-92754228-A-G not specified Uncertain significance (Apr 20, 2024)3307628
12-92755836-G-A not specified Uncertain significance (Feb 21, 2024)3215034
12-92755912-A-C not specified Uncertain significance (Jan 17, 2025)3890362
12-92755925-G-T not specified Uncertain significance (Aug 14, 2024)2354549
12-92756321-A-G Likely benign (Dec 01, 2022)2643217
12-92756328-G-A not specified Uncertain significance (Aug 21, 2023)2593744
12-92761764-T-G not specified Uncertain significance (Mar 25, 2024)3307627
12-92761781-T-G not specified Uncertain significance (Jan 19, 2025)3215035
12-92761790-A-G not specified Likely benign (Jan 03, 2024)3215036
12-92764056-G-C not specified Uncertain significance (Dec 20, 2023)3215037
12-92764070-G-A not specified Uncertain significance (Oct 12, 2022)2318128
12-92764075-C-T not specified Uncertain significance (Aug 01, 2024)3420586
12-92764134-G-A not specified Uncertain significance (Jul 31, 2024)3420587

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
PLEKHG7protein_codingprotein_codingENST00000344636 1150951
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.89e-190.00089212545312861257400.00114
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.2481831930.9500.000009542480
Missense in Polyphen2833.1320.84511463
Synonymous1.066172.50.8410.00000396689
Loss of Function-0.5462724.11.120.00000133284

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.009700.00967
Ashkenazi Jewish0.000.00
East Asian0.0006690.000653
Finnish0.00004620.0000462
European (Non-Finnish)0.0004970.000422
Middle Eastern0.0006690.000653
South Asian0.001900.00180
Other0.001320.000978

dbNSFP

Source: dbNSFP

Intolerance Scores

loftool
0.929
rvis_EVS
0.46
rvis_percentile_EVS
78.59

Haploinsufficiency Scores

pHI
0.192
hipred
N
hipred_score
0.212
ghis
0.471

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0567

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Gene ontology

Biological process
regulation of Rho protein signal transduction
Cellular component
Molecular function
Rho guanyl-nucleotide exchange factor activity