GAS5

growth arrest specific 5, the group of Small nucleolar RNA non-coding host genes|Long non-coding RNAs with non-systematic symbols

Basic information

Region (hg38): 1:173851424-173868940

Links

ENSG00000234741 ∙ NCBI:60674 ∙ OMIM:608280 ∙ HGNC:16355 ∙ ∙ ∙ 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 GAS5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GAS5 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						0
Total	0	0	0	0	0

Variants in GAS5

This is a list of pathogenic ClinVar variants found in the GAS5 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-173853083-A-G			Benign (Jun 14, 2018)
1-173853326-ATGTTTACGTCTTC-A		Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	Uncertain significance (Jan 21, 2025)
1-173853331-T-A			Likely benign (Jun 29, 2024)
1-173853333-C-T		not specified • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	Likely benign (Jan 28, 2025)
1-173853334-G-A			Likely benign (Nov 27, 2023)
1-173853344-T-G			Uncertain significance (Jan 13, 2022)
1-173853353-C-CT			Pathogenic (May 07, 2020)
1-173853359-T-G		Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	Likely pathogenic (Jan 21, 2025)
1-173853370-C-T			Pathogenic (Jun 14, 2023)
1-173853371-G-T			Uncertain significance (Feb 01, 2024)
1-173853379-T-C			Uncertain significance (Aug 17, 2023)
1-173853379-T-G		Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	Uncertain significance (Aug 04, 2023)
1-173853384-T-C		DARS2-related disorder	Likely benign (Jul 03, 2022)
1-173853385-G-T		Inborn genetic diseases • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	Uncertain significance (Oct 09, 2024)
1-173853387-C-A			Uncertain significance (Sep 27, 2022)
1-173853387-CCTT-C			Uncertain significance (Apr 22, 2024)
1-173853394-G-C		Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	Uncertain significance (Jan 13, 2018)
1-173853398-CAA-C		Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	Pathogenic (Jan 21, 2025)
1-173853402-A-G			Likely benign (Aug 30, 2023)
1-173853424-A-G		Inborn genetic diseases	Likely benign (Oct 05, 2023)
1-173853425-C-T		Inborn genetic diseases	Uncertain significance (Nov 19, 2024)
1-173853427-C-G			Uncertain significance (Jul 14, 2022)
1-173853429-G-GT			Pathogenic (Nov 19, 2024)
1-173853437-T-C		Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	Uncertain significance (Jan 21, 2025)
1-173853444-G-A		Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	Likely pathogenic (Jan 21, 2025)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Essentials

• gene_indispensability_pred: E
• gene_indispensability_score: 0.820

Mouse Genome Informatics

• Gene name: Gas5