ANKRD30A

ankyrin repeat domain 30A, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 10:37125598-37232567

Links

ENSG00000148513 ∙ NCBI:91074 ∙ OMIM:610856 ∙ HGNC:17234 ∙ Uniprot:Q9BXX3 ∙ 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 ANKRD30A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD30A 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		1
missense			66	7		73
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	8	0

Variants in ANKRD30A

This is a list of pathogenic ClinVar variants found in the ANKRD30A region.

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

Position	Type	Phenotype	Significance	ClinVar
10-37125992-C-A		not specified	Uncertain significance (Apr 26, 2023)
10-37129908-G-T		not specified	Uncertain significance (Mar 01, 2024)
10-37129936-G-A		not specified	Uncertain significance (May 18, 2023)
10-37129952-A-G		not specified	Uncertain significance (Mar 28, 2023)
10-37129967-T-A		not specified	Uncertain significance (Nov 19, 2022)
10-37129970-A-G		not specified	Uncertain significance (Dec 07, 2021)
10-37130325-T-C		not specified	Uncertain significance (Feb 14, 2023)
10-37132255-C-G		not specified	Uncertain significance (Dec 20, 2023)
10-37133932-G-T		not specified	Uncertain significance (Feb 27, 2023)
10-37133987-A-G		not specified	Uncertain significance (Jul 20, 2022)
10-37141726-T-C		not specified	Uncertain significance (Jul 30, 2023)
10-37141726-T-G		not specified	Uncertain significance (May 24, 2024)
10-37141802-C-T		not specified	Uncertain significance (Mar 06, 2023)
10-37141817-C-A		not specified	Uncertain significance (Nov 18, 2023)
10-37141825-G-A		not specified	Uncertain significance (Sep 17, 2021)
10-37141825-G-C		not specified	Uncertain significance (May 24, 2024)
10-37141982-C-T		not specified	Uncertain significance (Sep 16, 2021)
10-37142149-G-A		not specified	Uncertain significance (Apr 04, 2024)
10-37142188-G-A		not specified	Uncertain significance (Jun 11, 2024)
10-37142188-G-T		not specified	Uncertain significance (Jan 20, 2023)
10-37142298-G-A			Likely benign (Feb 01, 2024)
10-37145022-A-G		not specified	Uncertain significance (Jun 18, 2021)
10-37145055-G-T		not specified	Uncertain significance (Jul 15, 2021)
10-37147408-A-G		not specified	Uncertain significance (Jul 09, 2021)
10-37147439-A-G		not specified	Uncertain significance (Jan 26, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKRD30A	protein_coding	protein_coding	ENST00000361713	35	258255

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.69e-45	1.29e-7	123702	6	1101	124809	0.00444

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.83	778	586	1.33	0.0000279	8835
Missense in Polyphen		75	53.253	1.4084		804
Synonymous	-2.27	247	206	1.20	0.0000111	2250
Loss of Function	-0.231	67	65.0	1.03	0.00000283	1052

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00364	0.00357
Ashkenazi Jewish	0.000696	0.000695
East Asian	0.000567	0.000500
Finnish	0.00377	0.00376
European (Non-Finnish)	0.00672	0.00663
Middle Eastern	0.000567	0.000500
South Asian	0.00480	0.00445
Other	0.00550	0.00513

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.991
• rvis_EVS: 2.7
• rvis_percentile_EVS: 98.9

Haploinsufficiency Scores

• pHI: 0.0541
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0175

Gene Damage Prediction

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

Gene ontology

• Biological process: regulation of transcription, DNA-templated
• Cellular component: nucleus
• Molecular function: DNA binding;DNA-binding transcription factor activity