ACTR3C

actin related protein 3C, the group of Actin related proteins

Basic information

Region (hg38): 7:150243915-150323725

Links

ENSG00000106526 ∙ NCBI:653857 ∙ ∙ HGNC:37282 ∙ Uniprot:Q9C0K3 ∙ 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 ACTR3C gene.

• Inborn genetic diseases (13 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACTR3C 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			13			13
nonsense					1	1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	0	1

Variants in ACTR3C

This is a list of pathogenic ClinVar variants found in the ACTR3C region.

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

Position	Type	Phenotype	Significance	ClinVar
7-150284755-T-G		not specified	Uncertain significance (Apr 28, 2022)
7-150284763-G-A		not specified	Uncertain significance (Dec 22, 2023)
7-150284764-G-A		not specified	Uncertain significance (May 27, 2022)
7-150284769-C-T		not specified	Uncertain significance (Jan 09, 2024)
7-150284799-T-G		not specified	Uncertain significance (Dec 21, 2022)
7-150284823-T-C		not specified	Uncertain significance (Dec 17, 2021)
7-150284825-C-T		not specified	Uncertain significance (Dec 06, 2022)
7-150284838-T-A		not specified	Uncertain significance (May 08, 2023)
7-150286443-G-A		not specified	Uncertain significance (Aug 08, 2022)
7-150286477-G-A		not specified	Benign (Mar 28, 2016)
7-150286516-C-G		not specified	Uncertain significance (Jan 16, 2024)
7-150286516-C-T		not specified	Uncertain significance (Dec 15, 2022)
7-150289481-T-C		not specified	Uncertain significance (Jan 17, 2023)
7-150289487-G-A		not specified	Uncertain significance (Feb 12, 2024)
7-150289535-A-G		not specified	Uncertain significance (Jan 30, 2024)
7-150289553-G-A		not specified	Uncertain significance (Nov 02, 2021)
7-150293370-C-G		not specified	Uncertain significance (Jun 22, 2023)
7-150293371-G-A		not specified	Uncertain significance (Feb 03, 2022)
7-150295262-A-G		not specified	Uncertain significance (Oct 20, 2023)
7-150295263-T-C		not specified	Uncertain significance (Jun 02, 2023)
7-150295278-C-G		not specified	Uncertain significance (Nov 10, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACTR3C	protein_coding	protein_coding	ENST00000539352	6	79810

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000721	0.505	113913	478	11355	125746	0.0482

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.128	116	112	1.03	0.00000602	1356
Missense in Polyphen		35	39.033	0.89669		452
Synonymous	0.0697	43	43.6	0.987	0.00000270	396
Loss of Function	0.660	9	11.4	0.789	5.47e-7	143

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0369	0.0369
Ashkenazi Jewish	0.0507	0.0476
East Asian	0.00522	0.00518
Finnish	0.0853	0.0833
European (Non-Finnish)	0.0532	0.0524
Middle Eastern	0.00522	0.00518
South Asian	0.0902	0.0849
Other	0.0506	0.0498

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in the suppression of metastatic potential in lung adenoma carcinoma cells. {ECO:0000269|PubMed:11162478}.
• Pathway: Tight junction - Homo sapiens (human) (Consensus)

Intolerance Scores

• rvis_EVS: 0.48
• rvis_percentile_EVS: 78.95

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.187

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.231

Gene Damage Prediction

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

Gene ontology

• Biological process: biological_process;Arp2/3 complex-mediated actin nucleation
• Cellular component: Arp2/3 protein complex;extracellular exosome
• Molecular function: molecular_function;actin binding;ATP binding