VWA8

von Willebrand factor A domain containing 8, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 13:41566834-41961120

Previous symbols: [ "KIAA0564" ]

Links

ENSG00000102763 ∙ NCBI:23078 ∙ OMIM:617509 ∙ HGNC:29071 ∙ Uniprot:A3KMH1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• retinitis pigmentosa 97 (Limited), mode of inheritance: Unknown
• retinitis pigmentosa 97 (Limited), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Retinitis pigmentosa 97	AD	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Ophthalmologic	37012052

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the VWA8 gene.

• Inborn genetic diseases (37 variants)
• not provided (14 variants)
• Retinitis pigmentosa 97 (1 variants)
• Nonsyndromic cleft lip palate (1 variants)
• - (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the VWA8 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				4	3	7
missense			37	2	3	42
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					2	2
non coding						0
Total	0	0	37	6	6

Variants in VWA8

This is a list of pathogenic ClinVar variants found in the VWA8 region.

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

Position	Type	Phenotype	Significance	ClinVar
13-41570579-T-G		not specified	Uncertain significance (Aug 02, 2021)
13-41570611-A-C			Uncertain significance (Mar 01, 2024)
13-41615006-C-G		Nonsyndromic cleft lip palate	Likely pathogenic (Mar 27, 2016)
13-41615006-C-T			Likely benign (Nov 01, 2023)
13-41670961-A-G			Likely benign (Jun 01, 2022)
13-41670964-T-C			Likely benign (Jun 01, 2022)
13-41670999-G-A		Nonsyndromic cleft lip palate	Likely pathogenic (Mar 27, 2016)
13-41671090-T-C			Likely benign (Mar 29, 2018)
13-41685059-T-G			Benign (Mar 29, 2018)
13-41691945-A-G		Nonsyndromic cleft lip palate	Likely pathogenic (Mar 27, 2016)
13-41692935-G-A			Benign (Mar 29, 2018)
13-41719602-C-G		not specified	Uncertain significance (Oct 27, 2022)
13-41719625-C-T		not specified	Uncertain significance (Dec 22, 2023)
13-41719634-T-A		not specified	Uncertain significance (Jun 16, 2023)
13-41719637-C-T		-	no classification for the single variant (-)
13-41719656-A-C		not specified	Uncertain significance (Oct 06, 2021)
13-41719684-T-C		not specified	Uncertain significance (Jan 20, 2023)
13-41721522-C-T		not specified	Uncertain significance (Oct 17, 2023)
13-41721523-G-A			Benign (May 09, 2018)
13-41721557-T-A		not specified	Uncertain significance (Nov 18, 2023)
13-41727269-G-A		not specified	Uncertain significance (Nov 15, 2021)
13-41729573-C-A		not specified	Uncertain significance (Oct 03, 2023)
13-41729601-A-G		not specified	Uncertain significance (Aug 13, 2021)
13-41729685-G-A			Benign (Mar 29, 2018)
13-41732106-G-A		not specified	Uncertain significance (Jul 20, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
VWA8	protein_coding	protein_coding	ENST00000379310	45	394284

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.41e-70	1.15e-10	125054	0	694	125748	0.00276

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.206	1028	1.01e+3	1.02	0.0000535	12390
Missense in Polyphen		374	367.34	1.0181		4275
Synonymous	-0.289	372	365	1.02	0.0000197	3718
Loss of Function	0.202	107	109	0.979	0.00000616	1270

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00697	0.00690
Ashkenazi Jewish	0.00330	0.00328
East Asian	0.00190	0.00185
Finnish	0.000511	0.000508
European (Non-Finnish)	0.00261	0.00257
Middle Eastern	0.00190	0.00185
South Asian	0.00459	0.00458
Other	0.00148	0.00147

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Exhibits ATPase activity in vitro. {ECO:0000250|UniProtKB:Q8CC88}.

Recessive Scores

• pRec: 0.104

Intolerance Scores

• rvis_EVS: -0.88
• rvis_percentile_EVS: 10.51

Haploinsufficiency Scores

• pHI: 0.160
• hipred: N
• hipred_score: 0.284
• ghis: 0.524

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Vwa8
• Phenotype: immune system phenotype; hematopoietic system phenotype; homeostasis/metabolism phenotype

Gene ontology

• Cellular component: mitochondrion
• Molecular function: protein binding;ATP binding;ATPase activity