PLEKHG7

protein-coding

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

Gene summary

Predicted to enable guanyl-nucleotide exchange factor activity. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C12orf74

MANE transcript

NM_001377329.1

Inheritance

—

ClinVar variants

U:40B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.12

Max pathogenic AF

—

Genomic locus

chr12:92,702,843-92,772,455

External References & Databases

Ensembl (ENSG00000187510)

Transcript & Mutation Effects

hg38 • Region Span ~69.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to PLEKHG7 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 37

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001377329.1. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar	1 clinvar	2
missense			37 clinvar	2 clinvar	1 clinvar	40
nonsense			2 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	40	3	2	45

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 16 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001377329.1	RefSeq	NP_001364258.1	16	MANE Select
ENST00000344636.6	Ensembl	ENSP00000344961.5	16	MANE Select
NM_001037671.4	RefSeq	NP_001032760.1	2	Standard
NM_001178097.3	RefSeq	NP_001171568.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

regulation of Rho protein signal transduction

Molecular Function

Rho guanyl-nucleotide exchange factor activity

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000344636
Coding exons: 11
Length: 50951
Individuals with no LoFs: 125453
Homozygous LoFs: 1
Heterozygous LoFs: 286
Defined: 125740
p: 0.00114

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.248	183	193	0.950	0.00000954	2480
Missense (PolyPhen)		28	33.132	0.84511		463
Synonymous	1.06	61	72.5	0.841	0.00000396	689
Loss of Function	-0.546	27	24.1	1.12	0.00000133	284

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0092	0.0092	notable
Latino/Admixed American	0.00046	0.00046	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00067	0.00065	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00050	0.00042	rare
South Asian	0.0019	0.0018	notable
Other	0.0013	0.00098	notable

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.929
RVIS EVS: 0.46
RVIS percentile EVS: 78.59

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0567

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium