ARMC6

armadillo repeat containing 6, the group of Armadillo repeat containing

Basic information

Region (hg38): 19:19033575-19060311

Links

ENSG00000105676 ∙ NCBI:93436 ∙ ∙ HGNC:25049 ∙ Uniprot:Q6NXE6 ∙ 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 ARMC6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARMC6 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			30	1		31
nonsense						0
start loss			1			1
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	31	1	0

Variants in ARMC6

This is a list of pathogenic ClinVar variants found in the ARMC6 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-19042727-G-A		not specified	Uncertain significance (Feb 28, 2023)
19-19042758-T-C		not specified	Uncertain significance (Jan 03, 2022)
19-19042770-G-A		not specified	Uncertain significance (May 24, 2024)
19-19042776-C-G		not specified	Uncertain significance (Dec 21, 2023)
19-19042802-C-T		not specified	Uncertain significance (May 09, 2023)
19-19042803-G-A		not specified	Uncertain significance (Aug 14, 2023)
19-19042872-C-T		not specified	Uncertain significance (Jan 17, 2023)
19-19044030-G-C		not specified	Uncertain significance (Jan 17, 2023)
19-19051693-C-G		not specified	Uncertain significance (Jan 03, 2024)
19-19051734-C-T		not specified	Uncertain significance (Jun 05, 2023)
19-19051760-A-G		not specified	Uncertain significance (Jan 05, 2022)
19-19051824-C-T		not specified	Uncertain significance (Oct 05, 2021)
19-19051830-C-T		not specified	Uncertain significance (Jun 06, 2023)
19-19051979-C-T		not specified	Uncertain significance (Jul 12, 2022)
19-19052031-C-T		not specified	Uncertain significance (Jan 23, 2023)
19-19052046-A-G		not specified	Uncertain significance (Jul 27, 2022)
19-19052129-C-A		not specified	Uncertain significance (Sep 07, 2022)
19-19052156-G-C		not specified	Uncertain significance (Sep 01, 2021)
19-19052183-G-A		not specified	Uncertain significance (Jun 06, 2023)
19-19054166-C-A		not specified	Uncertain significance (Jul 11, 2023)
19-19054257-G-A		not specified	Uncertain significance (Feb 05, 2024)
19-19054314-G-A		not specified	Uncertain significance (Nov 07, 2023)
19-19055313-G-A		not specified	Uncertain significance (Mar 30, 2024)
19-19055338-G-A		not specified	Likely benign (Jun 13, 2023)
19-19055851-C-T		not specified	Uncertain significance (Mar 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARMC6	protein_coding	protein_coding	ENST00000535612	8	26180

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.84e-10	0.226	125675	0	73	125748	0.000290

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.476	301	325	0.926	0.0000208	3248
Missense in Polyphen		73	85.477	0.85403		872
Synonymous	0.905	129	143	0.904	0.00000998	1057
Loss of Function	0.725	17	20.5	0.827	0.00000105	210

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000869	0.000865
Ashkenazi Jewish	0.00	0.00
East Asian	0.000381	0.000381
Finnish	0.0000474	0.0000462
European (Non-Finnish)	0.000252	0.000246
Middle Eastern	0.000381	0.000381
South Asian	0.000331	0.000327
Other	0.000330	0.000326

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.102

Intolerance Scores

• loftool: 0.806
• rvis_EVS: -0.84
• rvis_percentile_EVS: 11.28

Haploinsufficiency Scores

• pHI: 0.0965
• hipred: N
• hipred_score: 0.197
• ghis: 0.613

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.986

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Armc6

Gene ontology

• Biological process: hematopoietic progenitor cell differentiation
• Cellular component: cytosol