PARVG

parvin gamma, the group of Parvins

Basic information

Region (hg38): 22:44172955-44219533

Links

ENSG00000138964 ∙ NCBI:64098 ∙ OMIM:608122 ∙ HGNC:14654 ∙ Uniprot:Q9HBI0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PARVG 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						0
missense			22			22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	22	0	0

Variants in PARVG

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

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

Position	Type	Phenotype	Significance	ClinVar
22-44183352-A-G		not specified	Uncertain significance (Dec 08, 2023)
22-44183388-C-T		not specified	Uncertain significance (Aug 17, 2022)
22-44185832-C-T		not specified	Uncertain significance (Dec 20, 2023)
22-44187828-G-A		not specified	Uncertain significance (Dec 30, 2023)
22-44189152-G-A		not specified	Uncertain significance (Dec 11, 2023)
22-44189251-G-A		not specified	Uncertain significance (May 01, 2024)
22-44190638-A-G		not specified	Uncertain significance (Nov 05, 2021)
22-44190661-A-G		not specified	Uncertain significance (Apr 12, 2022)
22-44192079-T-G		not specified	Uncertain significance (Mar 27, 2023)
22-44192100-T-C		not specified	Uncertain significance (Dec 21, 2023)
22-44193805-G-T		not specified	Uncertain significance (Sep 21, 2023)
22-44196160-G-A		not specified	Uncertain significance (Apr 18, 2023)
22-44196185-C-G		not specified	Uncertain significance (Feb 10, 2022)
22-44196209-A-C		not specified	Uncertain significance (Jan 16, 2024)
22-44198696-C-G		not specified	Uncertain significance (Jul 14, 2021)
22-44198706-A-C		not specified	Uncertain significance (Jun 12, 2023)
22-44198711-C-T		not specified	Uncertain significance (Jan 24, 2024)
22-44205757-C-T		not specified	Likely benign (Dec 13, 2023)
22-44205799-G-A		not specified	Uncertain significance (Nov 21, 2023)
22-44206322-G-A		not specified	Uncertain significance (Jan 03, 2024)
22-44206342-C-A		not specified	Uncertain significance (Dec 09, 2023)
22-44206350-G-A		not specified	Uncertain significance (May 20, 2024)
22-44206385-A-G		not specified	Uncertain significance (Jan 07, 2022)
22-44206419-C-T		not specified	Uncertain significance (Feb 10, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PARVG	protein_coding	protein_coding	ENST00000444313	12	46578

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000142	0.963	125705	0	43	125748	0.000171

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.282	179	190	0.942	0.0000109	2156
Missense in Polyphen		47	48.371	0.97166		614
Synonymous	0.0775	86	86.9	0.989	0.00000573	643
Loss of Function	1.91	11	20.3	0.542	0.00000105	230

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000646	0.000641
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000214	0.000211
Middle Eastern	0.00	0.00
South Asian	0.000131	0.000131
Other	0.000172	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probably plays a role in the regulation of cell adhesion and cytoskeleton organization. {ECO:0000250}.
• Pathway: Focal adhesion - Homo sapiens (human);Focal Adhesion;Integrin-linked kinase signaling (Consensus)

Recessive Scores

• pRec: 0.146

Intolerance Scores

• loftool: 0.273
• rvis_EVS: 0.33
• rvis_percentile_EVS: 73.54

Haploinsufficiency Scores

• pHI: 0.0908
• hipred: N
• hipred_score: 0.414
• ghis: 0.533

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.305

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Parvg
• Phenotype: normal phenotype

Gene ontology

• Biological process: cell-matrix adhesion;establishment or maintenance of cell polarity;cell projection assembly;actin cytoskeleton reorganization;substrate adhesion-dependent cell spreading
• Cellular component: cytoplasm;cytoskeleton;plasma membrane;focal adhesion;actin cytoskeleton
• Molecular function: actin binding;protein binding