ANKRD18A

ankyrin repeat domain 18A, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 9:38540567-38620596

Links

ENSG00000180071 ∙ NCBI:253650 ∙ OMIM:620259 ∙ HGNC:23643 ∙ Uniprot:Q8IVF6 ∙ 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 ANKRD18A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD18A 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				1	5	6
missense			66	11	5	82
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	66	12	10

Variants in ANKRD18A

This is a list of pathogenic ClinVar variants found in the ANKRD18A region.

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

Position	Type	Phenotype	Significance	ClinVar
9-38572050-A-G		not specified	Uncertain significance (Sep 26, 2024)
9-38575487-A-C		not specified	Uncertain significance (Dec 03, 2024)
9-38575508-T-C		not specified	Uncertain significance (Mar 07, 2025)
9-38575535-T-C			Benign (Dec 31, 2019)
9-38575553-A-G		not specified	Uncertain significance (Jun 24, 2022)
9-38575571-T-C		not specified	Uncertain significance (Sep 26, 2024)
9-38575604-G-A		not specified	Uncertain significance (Dec 04, 2024)
9-38575614-T-C			Benign (Dec 31, 2019)
9-38575615-G-A			Benign (Dec 31, 2019)
9-38575625-T-C		not specified	Uncertain significance (Jan 31, 2022)
9-38577069-A-G		not specified	Uncertain significance (Nov 03, 2023)
9-38577090-C-T		not specified	Uncertain significance (Sep 27, 2021)
9-38577104-G-C		not specified	Uncertain significance (Jun 30, 2023)
9-38577136-C-A		not specified	Likely benign (Feb 28, 2023)
9-38577170-C-A		not specified	Uncertain significance (Mar 01, 2024)
9-38577199-C-G		not specified	Uncertain significance (Jun 24, 2022)
9-38577242-T-C			Benign (Dec 31, 2019)
9-38577242-T-G		not specified	Uncertain significance (Nov 17, 2023)
9-38577258-C-T		not specified	Uncertain significance (May 23, 2023)
9-38577917-C-T		not specified	Uncertain significance (Mar 28, 2023)
9-38577970-A-T		not specified	Uncertain significance (Apr 01, 2024)
9-38577992-C-T		not specified	Uncertain significance (Nov 13, 2024)
9-38578007-T-C		not specified	Uncertain significance (May 25, 2022)
9-38578015-T-C		not specified	Uncertain significance (Apr 14, 2022)
9-38578055-T-C		not specified	Uncertain significance (Jan 18, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKRD18A	protein_coding	protein_coding	ENST00000399703	16	80092

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.78e-11	0.973	125439	0	7	125446	0.0000279

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.684	384	424	0.906	0.0000211	6549
Missense in Polyphen		68	84.16	0.80799		1327
Synonymous	1.88	128	158	0.810	0.00000812	1718
Loss of Function	2.25	22	36.7	0.599	0.00000175	648

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000494	0.0000462
European (Non-Finnish)	0.0000389	0.0000353
Middle Eastern	0.00	0.00
South Asian	0.0000654	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 2.7
• rvis_percentile_EVS: 98.91

Haploinsufficiency Scores

• pHI: 0.0188
• hipred: N
• hipred_score: 0.139
• ghis: 0.484

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.178

Gene Damage Prediction

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