GARS1-DT

GARS1 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 7:30516309-30595286

Previous symbols: [ "GARS-DT" ]

Links

ENSG00000196295 ∙ NCBI:401320 ∙ ∙ HGNC:48951 ∙ ∙ ∙ 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 GARS1-DT gene.

• Charcot-Marie-Tooth disease type 2 (60 variants)
• not provided (34 variants)
• Charcot-Marie-Tooth disease type 2D (25 variants)
• Distal spinal muscular atrophy (23 variants)
• Neuronopathy, distal hereditary motor, type 5A (23 variants)
• Inborn genetic diseases (15 variants)
• not specified (11 variants)
• Charcot-Marie-Tooth disease (10 variants)
• Neuronopathy, distal hereditary motor, type 5A;Charcot-Marie-Tooth disease type 2D (2 variants)
• Charcot-Marie-Tooth disease type 2D;Neuronopathy, distal hereditary motor, type 5A (1 variants)
• Motor neuron disease (1 variants)
• Spinal muscular atrophy, infantile, James type (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GARS1-DT 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)					1	1
splice region						0
non coding			60	32	10	102
Total	0	0	60	32	11

Variants in GARS1-DT

This is a list of pathogenic ClinVar variants found in the GARS1-DT region.

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

Position	Type	Phenotype	Significance	ClinVar
7-30594388-T-C			Benign (Jun 14, 2018)
7-30594476-T-C			Likely benign (Aug 07, 2018)
7-30594504-T-A			Benign (Jun 14, 2018)
7-30594605-G-A		Neuronopathy, distal hereditary motor, type 5A • Distal spinal muscular atrophy • Charcot-Marie-Tooth disease type 2D	Benign (Jun 14, 2018)
7-30594642-G-A		Neuronopathy, distal hereditary motor, type 5A • Charcot-Marie-Tooth disease type 2D • Distal spinal muscular atrophy	Benign (Jan 13, 2018)
7-30594685-A-C		Neuronopathy, distal hereditary motor, type 5A • Charcot-Marie-Tooth disease type 2D • Distal spinal muscular atrophy	Uncertain significance (Jan 13, 2018)
7-30594697-G-A		Distal spinal muscular atrophy • Neuronopathy, distal hereditary motor, type 5A • Charcot-Marie-Tooth disease type 2D	Benign/Likely benign (Jun 16, 2018)
7-30594705-A-G		Neuronopathy, distal hereditary motor, type 5A • Distal spinal muscular atrophy • Charcot-Marie-Tooth disease type 2D	Benign (Jun 16, 2018)
7-30594717-C-T		Distal spinal muscular atrophy • Neuronopathy, distal hereditary motor, type 5A • Charcot-Marie-Tooth disease type 2D	Benign/Likely benign (Jun 14, 2018)
7-30594725-G-C		Distal spinal muscular atrophy • Neuronopathy, distal hereditary motor, type 5A • Charcot-Marie-Tooth disease type 2D	Uncertain significance (Jan 12, 2018)
7-30594727-A-T		Neuronopathy, distal hereditary motor, type 5A • Charcot-Marie-Tooth disease type 2D • Distal spinal muscular atrophy	Uncertain significance (Jan 13, 2018)
7-30594742-G-C		Distal spinal muscular atrophy • Neuronopathy, distal hereditary motor, type 5A • Charcot-Marie-Tooth disease type 2D	Uncertain significance (Jan 13, 2018)
7-30594745-T-C		Distal spinal muscular atrophy • Neuronopathy, distal hereditary motor, type 5A • Charcot-Marie-Tooth disease type 2D	Benign/Likely benign (Apr 01, 2023)
7-30594756-T-G		Distal spinal muscular atrophy • Charcot-Marie-Tooth disease type 2D • Neuronopathy, distal hereditary motor, type 5A	Uncertain significance (Jan 13, 2018)
7-30594837-C-A		Charcot-Marie-Tooth disease type 2D • Neuronopathy, distal hereditary motor, type 5A • Distal spinal muscular atrophy	Conflicting classifications of pathogenicity (Aug 14, 2018)
7-30594842-C-T		Neuronopathy, distal hereditary motor, type 5A • Distal spinal muscular atrophy • Charcot-Marie-Tooth disease type 2D	Uncertain significance (Jan 13, 2018)
7-30594853-T-A		Charcot-Marie-Tooth disease type 2D • Distal spinal muscular atrophy • Neuronopathy, distal hereditary motor, type 5A	Benign (Jan 13, 2018)
7-30594853-T-G		Distal spinal muscular atrophy • Neuronopathy, distal hereditary motor, type 5A • Charcot-Marie-Tooth disease type 2D	Uncertain significance (Jan 13, 2018)
7-30594858-C-T		Neuronopathy, distal hereditary motor, type 5A • Distal spinal muscular atrophy • Charcot-Marie-Tooth disease type 2D	Uncertain significance (Jan 13, 2018)
7-30594863-C-T		Distal spinal muscular atrophy • Neuronopathy, distal hereditary motor, type 5A • Charcot-Marie-Tooth disease type 2D	Uncertain significance (Jan 13, 2018)
7-30594877-C-G		Charcot-Marie-Tooth disease type 2D;Neuronopathy, distal hereditary motor, type 5A	not provided (-)
7-30594877-C-T			Uncertain significance (May 15, 2018)
7-30594882-C-A		not specified	Likely benign (Jul 31, 2017)
7-30594884-G-A			Uncertain significance (Jan 04, 2017)
7-30594886-C-A		Distal spinal muscular atrophy • Charcot-Marie-Tooth disease type 2D • Neuronopathy, distal hereditary motor, type 5A	Benign/Likely benign (Jan 12, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP