ARMC7

armadillo repeat containing 7, the group of Armadillo repeat containing

Basic information

Region (hg38): 17:75109952-75130272

Links

ENSG00000125449 ∙ NCBI:79637 ∙ ∙ HGNC:26168 ∙ Uniprot:Q9H6L4 ∙ 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 ARMC7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARMC7 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			14	2		16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	2	0

Variants in ARMC7

This is a list of pathogenic ClinVar variants found in the ARMC7 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-75110311-A-G		not specified	Uncertain significance (May 13, 2024)
17-75110323-G-A		not specified	Uncertain significance (May 02, 2023)
17-75110341-A-G		not specified	Uncertain significance (Jan 18, 2022)
17-75110344-C-A		not specified	Uncertain significance (Jan 03, 2024)
17-75110496-A-G		not specified	Uncertain significance (May 07, 2024)
17-75110522-G-C		not specified	Likely benign (May 27, 2022)
17-75128694-T-G		not specified	Uncertain significance (Jan 02, 2025)
17-75128739-G-A		not specified	Likely benign (Feb 10, 2022)
17-75128763-T-G		not specified	Uncertain significance (Apr 23, 2024)
17-75128773-A-G		not specified	Uncertain significance (Dec 04, 2024)
17-75128821-C-T		not specified	Uncertain significance (Nov 22, 2021)
17-75128829-C-T		not specified	Uncertain significance (Jul 02, 2024)
17-75128857-C-T		not specified	Uncertain significance (Jan 29, 2025)
17-75128881-G-A		not specified	Uncertain significance (Jan 10, 2023)
17-75128906-G-C		not specified	Uncertain significance (Jan 18, 2023)
17-75128947-C-T		not specified	Uncertain significance (Jul 16, 2024)
17-75128970-C-T		not specified	Uncertain significance (Feb 01, 2025)
17-75128977-G-A		not specified	Uncertain significance (Sep 26, 2024)
17-75128983-C-T		not specified	Uncertain significance (Jan 19, 2025)
17-75129024-C-T		not specified	Uncertain significance (Mar 05, 2025)
17-75129034-G-A		not specified	Uncertain significance (Feb 15, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARMC7	protein_coding	protein_coding	ENST00000245543	3	20314

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0361	0.842	125732	0	16	125748	0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0875	129	126	1.02	0.00000760	1259
Missense in Polyphen		49	45.728	1.0715		487
Synonymous	0.641	56	62.4	0.897	0.00000393	430
Loss of Function	1.23	3	6.36	0.472	2.71e-7	71

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000164	0.000163
Finnish	0.0000467	0.0000462
European (Non-Finnish)	0.0000713	0.0000703
Middle Eastern	0.000164	0.000163
South Asian	0.000131	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.563
• rvis_EVS: 0.37
• rvis_percentile_EVS: 75.29

Haploinsufficiency Scores

• pHI: 0.0622
• hipred: N
• hipred_score: 0.240
• ghis: 0.486

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.803

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Armc7
• Phenotype: hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); immune system phenotype

Gene ontology

• Molecular function: protein binding