DNAH10OS

dynein axonemal heavy chain 10 opposite strand

Basic information

Region (hg38): 12:123925461-123934984

Links

ENSG00000250091 ∙ NCBI:642797 ∙ ∙ HGNC:37121 ∙ Uniprot:P0CZ25 ∙ 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 DNAH10OS gene.

• Inborn genetic diseases (30 variants)
• not provided (20 variants)
• Spermatogenic failure 56 (3 variants)
• not specified (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAH10OS 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding	1	1	36	11	6	55
Total	1	1	36	11	6

Highest pathogenic variant AF is 0.0000197

Variants in DNAH10OS

This is a list of pathogenic ClinVar variants found in the DNAH10OS region.

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

Position	Type	Phenotype	Significance	ClinVar
12-123926653-A-G		not specified	Uncertain significance (Jul 14, 2021)
12-123926727-C-T		DNAH10-related disorder	Likely benign (Nov 12, 2019)
12-123926745-T-C			Likely benign (Dec 31, 2019)
12-123926750-A-G		not specified	Uncertain significance (Jun 20, 2024)
12-123928381-G-A			Benign (Aug 01, 2024)
12-123928405-G-C			Uncertain significance (Nov 20, 2019)
12-123928409-C-T			Uncertain significance (Jul 01, 2019)
12-123928412-C-T		not specified	Uncertain significance (May 28, 2024)
12-123928413-G-A		DNAH10-related disorder	Benign (Oct 19, 2017)
12-123928453-C-T		not specified	Uncertain significance (Feb 16, 2023)
12-123928490-T-C		not specified	Uncertain significance (May 17, 2023)
12-123928522-C-T		Spermatogenic failure 56	Uncertain significance (Mar 15, 2022)
12-123928538-C-T		not specified	Uncertain significance (Dec 21, 2022)
12-123928551-G-A			Likely benign (Mar 01, 2022)
12-123928562-T-C		DNAH10-related disorder	Conflicting classifications of pathogenicity (Oct 01, 2023)
12-123928569-T-A			Likely benign (Apr 01, 2023)
12-123929299-C-A		not specified	Uncertain significance (Mar 04, 2024)
12-123929360-C-T		not specified	Uncertain significance (Feb 26, 2024)
12-123929366-C-G		not specified	Uncertain significance (Mar 18, 2024)
12-123929379-G-A			Likely benign (Aug 03, 2017)
12-123929389-G-A		not specified	Uncertain significance (Jan 23, 2023)
12-123929395-G-A		not specified	Uncertain significance (Aug 02, 2022)
12-123929396-C-T		not specified	Uncertain significance (Feb 06, 2024)
12-123929441-T-C		not specified	Uncertain significance (Jun 07, 2024)
12-123929452-G-A		not specified	Uncertain significance (Jun 17, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAH10OS	protein_coding	protein_coding	ENST00000514254	1	8561

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000179	0.282	114964	0	3	114967	0.0000130

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.105	72	69.5	1.04	0.00000378	1014
Missense in Polyphen
Synonymous	0.858	22	27.8	0.793	0.00000153	349
Loss of Function	-0.516	5	3.90	1.28	1.67e-7	57

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000637	0.0000593
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.0000637	0.0000593
South Asian	0.0000721	0.0000714
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.146
• ghis: 0.402

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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