RSPH10B2

radial spoke head 10 homolog B2, the group of Axonemal radial spoke subunits

Basic information

Region (hg38): 7:6754103-6799365

Links

ENSG00000169402 ∙ NCBI:728194 ∙ ∙ HGNC:34385 ∙ Uniprot:B2RC85 ∙ 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 RSPH10B2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RSPH10B2 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			30	5	1	36
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	30	6	1

Variants in RSPH10B2

This is a list of pathogenic ClinVar variants found in the RSPH10B2 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-6757726-C-T		not specified	Uncertain significance (Jun 07, 2023)
7-6757778-A-G		not specified	Likely benign (May 24, 2024)
7-6757858-C-T		not specified	Uncertain significance (Mar 05, 2024)
7-6757859-G-C		not specified	Likely benign (Oct 12, 2021)
7-6757867-G-A		not specified	Uncertain significance (Feb 17, 2023)
7-6763949-C-T		not specified	Uncertain significance (Jul 25, 2023)
7-6763957-C-A		not specified	Uncertain significance (Nov 21, 2023)
7-6763964-G-A		not specified	Uncertain significance (Nov 21, 2023)
7-6763989-T-G		not specified	Uncertain significance (Jan 02, 2024)
7-6764000-G-A		not specified	Uncertain significance (Jul 11, 2023)
7-6764034-T-A		not specified	Uncertain significance (Nov 14, 2023)
7-6764054-C-T		not specified	Uncertain significance (Nov 14, 2023)
7-6764091-G-A		not specified	Uncertain significance (Jan 03, 2024)
7-6765734-C-T		not specified	Uncertain significance (Feb 22, 2023)
7-6765775-G-T		not specified	Uncertain significance (Mar 01, 2023)
7-6766804-G-A		not specified	Uncertain significance (Sep 27, 2022)
7-6766854-G-A		not specified	Uncertain significance (Aug 17, 2021)
7-6766857-C-T		not specified	Uncertain significance (Oct 05, 2023)
7-6766858-G-A		not specified	Likely benign (Dec 28, 2023)
7-6779690-C-T			Benign (Sep 21, 2018)
7-6780876-T-G		not specified	Uncertain significance (Oct 04, 2022)
7-6781355-C-T		not specified	Conflicting classifications of pathogenicity (Nov 01, 2022)
7-6781421-C-T		not specified	Uncertain significance (Jan 20, 2023)
7-6781439-C-G		not specified	Uncertain significance (Nov 21, 2023)
7-6781442-C-T		not specified	Uncertain significance (Nov 18, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RSPH10B2	protein_coding	protein_coding	ENST00000403107	19	45257

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0205	0.979	124332	0	22	124354	0.0000885

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.58	182	253	0.721	0.0000139	5715
Missense in Polyphen		45	68.433	0.65758		1805
Synonymous	1.24	82	97.6	0.840	0.00000665	1477
Loss of Function	2.97	7	22.1	0.317	0.00000100	556

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000259	0.000253
Ashkenazi Jewish	0.00	0.00
East Asian	0.000350	0.000326
Finnish	0.00	0.00
European (Non-Finnish)	0.000104	0.0000901
Middle Eastern	0.000350	0.000326
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Essentials

• essential_gene_CRISPR: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.100

Gene Damage Prediction

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