WASHC5-AS1

WASHC5 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 8:125040684-125044989

Previous symbols: [ "KIAA0196-AS1" ]

Links

ENSG00000253167 ∙ ∙ ∙ HGNC:43440 ∙ ∙ ∙ 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 WASHC5-AS1 gene.

• not provided (15 variants)
• Hereditary spastic paraplegia 8;Ritscher-Schinzel syndrome (14 variants)
• Ritscher-Schinzel syndrome;Hereditary spastic paraplegia 8 (11 variants)
• Hereditary spastic paraplegia 8 (6 variants)
• Hereditary spastic paraplegia (4 variants)
• not specified (4 variants)
• Inborn genetic diseases (2 variants)
• Ritscher-Schinzel syndrome 1 (1 variants)
• Spastic paraplegia (1 variants)
• WASHC5-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WASHC5-AS1 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		29	8	4	42
Total	1	0	29	8	4

Variants in WASHC5-AS1

This is a list of pathogenic ClinVar variants found in the WASHC5-AS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-125043606-A-G			Likely benign (Jul 06, 2018)
8-125043618-C-T			Benign (Sep 29, 2018)
8-125043821-A-G		Hereditary spastic paraplegia 8 • WASHC5-related disorder • Ritscher-Schinzel syndrome;Hereditary spastic paraplegia 8	Uncertain significance (Aug 30, 2022)
8-125043826-T-C		Ritscher-Schinzel syndrome 1 • Hereditary spastic paraplegia 8	Uncertain significance (Mar 29, 2024)
8-125043829-A-G		Hereditary spastic paraplegia 8;Ritscher-Schinzel syndrome	Uncertain significance (Jan 14, 2024)
8-125043833-T-C		Hereditary spastic paraplegia 8;Ritscher-Schinzel syndrome	Uncertain significance (Jan 06, 2024)
8-125043839-C-T		Inborn genetic diseases • Ritscher-Schinzel syndrome 1	Conflicting classifications of pathogenicity (Sep 20, 2024)
8-125043842-G-C		Ritscher-Schinzel syndrome;Hereditary spastic paraplegia 8	Uncertain significance (Dec 18, 2023)
8-125043846-C-T		not specified • Ritscher-Schinzel syndrome;Hereditary spastic paraplegia 8	Likely benign (Jan 05, 2024)
8-125043881-A-T		Ritscher-Schinzel syndrome;Hereditary spastic paraplegia 8	Uncertain significance (Mar 30, 2023)
8-125043886-T-G		Ritscher-Schinzel syndrome;Hereditary spastic paraplegia 8	Uncertain significance (Mar 18, 2020)
8-125043895-T-C		not specified	Uncertain significance (Oct 13, 2023)
8-125043911-A-G		not specified • Hereditary spastic paraplegia 8;Ritscher-Schinzel syndrome • Hereditary spastic paraplegia 8 • Hereditary spastic paraplegia	Benign/Likely benign (Oct 05, 2023)
8-125043921-T-C		Hereditary spastic paraplegia 8;Ritscher-Schinzel syndrome	Likely benign (Mar 03, 2023)
8-125043973-G-GC		Ritscher-Schinzel syndrome;Hereditary spastic paraplegia 8	Benign (Feb 01, 2024)
8-125043986-A-G		Hereditary spastic paraplegia 8;Ritscher-Schinzel syndrome	Uncertain significance (Nov 15, 2020)
8-125043993-G-A		Ritscher-Schinzel syndrome;Hereditary spastic paraplegia 8	Uncertain significance (Jan 01, 2018)
8-125044010-G-A		Ritscher-Schinzel syndrome;Hereditary spastic paraplegia 8 • Spastic paraplegia	Uncertain significance (Oct 13, 2023)
8-125044028-G-A		Hereditary spastic paraplegia 8;Ritscher-Schinzel syndrome	Uncertain significance (Feb 20, 2022)
8-125044029-G-A		Ritscher-Schinzel syndrome;Hereditary spastic paraplegia 8	Likely benign (Jun 27, 2023)
8-125044046-G-C		Hereditary spastic paraplegia • Hereditary spastic paraplegia 8;Ritscher-Schinzel syndrome	Uncertain significance (Nov 12, 2023)
8-125044051-G-A		Ritscher-Schinzel syndrome;Hereditary spastic paraplegia 8	Uncertain significance (Oct 10, 2023)
8-125044091-A-C		Hereditary spastic paraplegia 8;Ritscher-Schinzel syndrome	Uncertain significance (Jun 21, 2023)
8-125044112-C-T		Ritscher-Schinzel syndrome;Hereditary spastic paraplegia 8	Likely benign (Oct 10, 2023)
8-125044113-G-A		Ritscher-Schinzel syndrome;Hereditary spastic paraplegia 8	Benign (Dec 05, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP