CLASP1-AS1

CLASP1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 2:121530422-121533666

Links

ENSG00000265451 ∙ NCBI:107985942 ∙ ∙ HGNC:55328 ∙ ∙ ∙ 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 CLASP1-AS1 gene.

• not provided (218 variants)
• Osteodysplastic primordial dwarfism, type 1 (16 variants)
• Roifman syndrome (15 variants)
• Lowry-Wood syndrome (8 variants)
• RNU4ATAC-related condition (6 variants)
• Osteodysplastic primordial dwarfism, type 1;Roifman syndrome;Lowry-Wood syndrome (3 variants)
• RNU4ATAC-related spliceosomopathies (2 variants)
• Intellectual disability;Short stature (2 variants)
• Lowry-Wood syndrome;Roifman syndrome;Osteodysplastic primordial dwarfism, type 1 (2 variants)
• Spondyloepiphyseal dysplasia congenita (2 variants)
• not specified (1 variants)
• Microcephaly;Cardiomyopathy;Short stature;Craniosynostosis syndrome;Neurodevelopmental delay (1 variants)
• Roifman syndrome;Osteodysplastic primordial dwarfism, type 1;Lowry-Wood syndrome (1 variants)
• Osteodysplastic primordial dwarfism, type 1;Lowry-Wood syndrome (1 variants)
• Lowry-Wood syndrome;Osteodysplastic primordial dwarfism, type 1;Roifman syndrome (1 variants)
• Roifman syndrome;Lowry-Wood syndrome;Osteodysplastic primordial dwarfism, type 1 (1 variants)
• Lowry-Wood syndrome;Osteodysplastic primordial dwarfism, type 1 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CLASP1-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	8	16	178	14	10	226
Total	8	16	178	14	10

Highest pathogenic variant AF is 0.0000920

Variants in CLASP1-AS1

This is a list of pathogenic ClinVar variants found in the CLASP1-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
2-121530617-C-A			Likely benign (Jul 10, 2018)
2-121530637-C-T			Benign (Jul 09, 2018)
2-121530681-T-C			Likely benign (Jul 10, 2018)
2-121530831-C-G			Benign (Jul 10, 2018)
2-121530839-T-C			Benign (Jul 10, 2018)
2-121530869-C-T		CLASP1-related disorder • RNU4ATAC-related disorder	Benign (Mar 20, 2019)
2-121530873-C-G		CLASP1-related disorder	Likely benign (Aug 19, 2020)
2-121530879-T-C		CLASP1-related disorder • RNU4ATAC-related disorder	Likely benign (Feb 18, 2020)
2-121530880-A-G			Uncertain significance (Apr 29, 2022)
2-121530881-A-C			Uncertain significance (May 02, 2023)
2-121530881-A-G			Uncertain significance (Nov 01, 2021)
2-121530882-C-G			Uncertain significance (Oct 21, 2024)
2-121530882-C-T			Uncertain significance (Jan 25, 2024)
2-121530883-C-T			Uncertain significance (Oct 18, 2022)
2-121530884-A-C		Lowry-Wood syndrome	Uncertain significance (Jun 01, 2020)
2-121530884-A-G			Uncertain significance (Jan 29, 2024)
2-121530884-A-T			Uncertain significance (May 30, 2022)
2-121530885-T-C		RNU4ATAC-related spliceosomopathies	Conflicting classifications of pathogenicity (Aug 30, 2024)
2-121530885-TC-AT			Uncertain significance (Jan 17, 2024)
2-121530886-C-T			Uncertain significance (Oct 24, 2022)
2-121530887-C-A		Lowry-Wood syndrome	Likely pathogenic (Jul 16, 2018)
2-121530887-C-G		Roifman syndrome	Conflicting classifications of pathogenicity (May 02, 2023)
2-121530887-C-T		Roifman syndrome • Microcephaly;Cardiomyopathy;Craniosynostosis syndrome;Neurodevelopmental delay;Short stature • Spondyloepiphyseal dysplasia congenita • not specified • RNU4ATAC-related disorder	Conflicting classifications of pathogenicity (Jan 31, 2024)
2-121530889-T-C			Uncertain significance (Jan 20, 2022)
2-121530889-TTTC-T			Uncertain significance (Nov 03, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP