ADAMTSL4-AS2

ADAMTSL4 antisense RNA 2, the group of Antisense RNAs

Basic information

Region (hg38): 1:150548562-150557724

Links

ENSG00000237781 ∙ NCBI:100289061 ∙ ∙ HGNC:40895 ∙ ∙ ∙ 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 ADAMTSL4-AS2 gene.

• not provided (477 variants)
• Ectopia lentis 2, isolated, autosomal recessive (89 variants)
• Ectopia lentis et pupillae (53 variants)
• Inborn genetic diseases (37 variants)
• Ectopia lentis et pupillae;Ectopia lentis 2, isolated, autosomal recessive (7 variants)
• ADAMTSL4-related condition (5 variants)
• not specified (3 variants)
• Ectopia lentis (3 variants)
• See cases (1 variants)
• Ectopia lentis 2, isolated, autosomal recessive;Ectopia lentis et pupillae (1 variants)
• Isolated ectopia lentis (1 variants)
• Craniosynostosis with ectopia lentis (1 variants)
• Craniosynostosis syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAMTSL4-AS2 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)	2		1			3
splice region						0
non coding	39	8	266	160	45	518
Total	41	8	267	160	45

Highest pathogenic variant AF is 0.00118

Variants in ADAMTSL4-AS2

This is a list of pathogenic ClinVar variants found in the ADAMTSL4-AS2 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-150549422-C-T		Ectopia lentis 2, isolated, autosomal recessive	Uncertain significance (Jan 19, 2018)
1-150549837-C-T		Ectopia lentis 2, isolated, autosomal recessive	Benign (Jan 13, 2018)
1-150549880-G-A		Ectopia lentis 2, isolated, autosomal recessive	Uncertain significance (Jan 12, 2018)
1-150551891-CA-C			Benign (Nov 05, 2020)
1-150551891-C-CA			Benign (Feb 03, 2021)
1-150551992-G-A			Likely benign (Aug 16, 2019)
1-150552288-G-A		ADAMTSL4-related disorder	Uncertain significance (Oct 05, 2022)
1-150552294-G-T			Uncertain significance (Jan 24, 2024)
1-150552297-C-G			Uncertain significance (Apr 03, 2023)
1-150552317-A-AG			Benign (Sep 01, 2022)
1-150552320-G-C			Likely benign (Mar 02, 2023)
1-150552322-C-T			Likely benign (Sep 27, 2023)
1-150552323-C-T			Likely benign (Jan 20, 2024)
1-150552325-C-T			Likely benign (Jan 13, 2024)
1-150552326-G-A			Likely benign (May 23, 2023)
1-150552328-G-A			Likely benign (Aug 09, 2023)
1-150552528-G-C			Likely benign (Jan 29, 2024)
1-150552529-C-A			Likely benign (Jul 25, 2023)
1-150552530-C-A			Likely benign (Dec 30, 2023)
1-150552530-C-T			Likely benign (Feb 26, 2023)
1-150552531-T-C			Likely benign (Oct 31, 2023)
1-150552534-G-T			Likely benign (Aug 23, 2023)
1-150552535-G-A			Likely benign (Sep 09, 2023)
1-150552546-C-G			Likely benign (Aug 30, 2023)
1-150552548-G-A			Pathogenic (Sep 08, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP