7-30594884-G-T

Variant summary

Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong

The NM_002047.4(GARS1):​c.-38G>T variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: not found (cov: 32)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control

Consequence

GARS1
NM_002047.4 5_prime_UTR

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.304
Variant links:
Genes affected
GARS1 (HGNC:4162): (glycyl-tRNA synthetase 1) This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
GARS1-DT (HGNC:48951): (GARS1 divergent transcript)

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Likely_benign. Variant got -2 ACMG points.

PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.49).

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
GARS1NM_002047.4 linkc.-38G>T 5_prime_UTR_variant Exon 1 of 17 ENST00000389266.8 NP_002038.2 P41250-1
GARS1NM_001316772.1 linkc.-200G>T 5_prime_UTR_variant Exon 1 of 17 NP_001303701.1 P41250-2

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
GARS1ENST00000389266 linkc.-38G>T 5_prime_UTR_variant Exon 1 of 17 1 NM_002047.4 ENSP00000373918.3 P41250-1
GARS1ENST00000675651 linkc.-38G>T 5_prime_UTR_variant Exon 1 of 17 ENSP00000502513.1 A0A6Q8PGZ8
GARS1ENST00000675810 linkc.-38G>T 5_prime_UTR_variant Exon 1 of 16 ENSP00000502743.1 A0A6Q8PHH9
GARS1ENST00000675693 linkc.-38G>T 5_prime_UTR_variant Exon 1 of 18 ENSP00000502174.1 A0A6Q8PGA8
GARS1ENST00000674815 linkc.-216G>T 5_prime_UTR_variant Exon 1 of 17 ENSP00000502799.1 A0A6Q8PGW4
GARS1ENST00000675051.1 linkc.22-3912G>T intron_variant Intron 1 of 16 ENSP00000502296.1 A0A6Q8PGI6
GARS1ENST00000674616.1 linkn.-38G>T non_coding_transcript_exon_variant Exon 1 of 18 ENSP00000502408.1 A0A6Q8PGT3
GARS1ENST00000674643.1 linkn.-38G>T non_coding_transcript_exon_variant Exon 1 of 17 ENSP00000501636.1 A0A6Q8PF45
GARS1ENST00000674737.1 linkn.-38G>T non_coding_transcript_exon_variant Exon 1 of 18 ENSP00000502464.1 A0A6Q8PGZ9
GARS1ENST00000674807.1 linkn.-38G>T non_coding_transcript_exon_variant Exon 1 of 16 ENSP00000502814.1 A0A6Q8PFZ6
GARS1ENST00000675529.1 linkn.-38G>T non_coding_transcript_exon_variant Exon 1 of 18 ENSP00000501655.1 A0A6Q8PFN0
GARS1ENST00000675859.1 linkn.-38G>T non_coding_transcript_exon_variant Exon 1 of 15 ENSP00000502033.1 A0A6Q8PFZ6
GARS1ENST00000676088.1 linkn.-38G>T non_coding_transcript_exon_variant Exon 1 of 19 ENSP00000501884.1 A0A6Q8PFN0
GARS1ENST00000676140.1 linkn.-38G>T non_coding_transcript_exon_variant Exon 1 of 17 ENSP00000502571.1 A0A6Q8PH49
GARS1ENST00000676210.1 linkn.-38G>T non_coding_transcript_exon_variant Exon 1 of 18 ENSP00000502373.1 A0A6Q8PGN7
GARS1ENST00000676259.1 linkn.-38G>T non_coding_transcript_exon_variant Exon 1 of 17 ENSP00000501980.1 A0A6Q8PFU7
GARS1ENST00000676403.1 linkn.-38G>T non_coding_transcript_exon_variant Exon 1 of 16 ENSP00000502681.1 A0A6Q8PHI7
GARS1ENST00000674616.1 linkn.-38G>T 5_prime_UTR_variant Exon 1 of 18 ENSP00000502408.1 A0A6Q8PGT3
GARS1ENST00000674643.1 linkn.-38G>T 5_prime_UTR_variant Exon 1 of 17 ENSP00000501636.1 A0A6Q8PF45
GARS1ENST00000674737.1 linkn.-38G>T 5_prime_UTR_variant Exon 1 of 18 ENSP00000502464.1 A0A6Q8PGZ9
GARS1ENST00000674807.1 linkn.-38G>T 5_prime_UTR_variant Exon 1 of 16 ENSP00000502814.1 A0A6Q8PFZ6
GARS1ENST00000675529.1 linkn.-38G>T 5_prime_UTR_variant Exon 1 of 18 ENSP00000501655.1 A0A6Q8PFN0
GARS1ENST00000675859.1 linkn.-38G>T 5_prime_UTR_variant Exon 1 of 15 ENSP00000502033.1 A0A6Q8PFZ6
GARS1ENST00000676088.1 linkn.-38G>T 5_prime_UTR_variant Exon 1 of 19 ENSP00000501884.1 A0A6Q8PFN0
GARS1ENST00000676140.1 linkn.-38G>T 5_prime_UTR_variant Exon 1 of 17 ENSP00000502571.1 A0A6Q8PH49
GARS1ENST00000676210.1 linkn.-38G>T 5_prime_UTR_variant Exon 1 of 18 ENSP00000502373.1 A0A6Q8PGN7
GARS1ENST00000676259.1 linkn.-38G>T 5_prime_UTR_variant Exon 1 of 17 ENSP00000501980.1 A0A6Q8PFU7
GARS1ENST00000676403.1 linkn.-38G>T 5_prime_UTR_variant Exon 1 of 16 ENSP00000502681.1 A0A6Q8PHI7
GARS1ENST00000674851.1 linkc.-252G>T upstream_gene_variant ENSP00000502451.1 A0A6Q8PGW4
GARS1ENST00000444666.6 linkn.-38G>T upstream_gene_variant 3 ENSP00000415447.2 H7C443
GARS1ENST00000676164.1 linkn.-38G>T upstream_gene_variant ENSP00000501986.1 A0A6Q8PFV5

Frequencies

GnomAD3 genomes
Cov.:
32
GnomAD4 exome
Data not reliable, filtered out with message: AC0
AF:
0.00
AC:
0
AN:
1349280
Hom.:
0
Cov.:
25
AF XY:
0.00
AC XY:
0
AN XY:
667586
Gnomad4 AFR exome
AF:
0.00
Gnomad4 AMR exome
AF:
0.00
Gnomad4 ASJ exome
AF:
0.00
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.00
Gnomad4 FIN exome
AF:
0.00
Gnomad4 NFE exome
AF:
0.00
Gnomad4 OTH exome
AF:
0.00
GnomAD4 genome
Cov.:
32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.49
CADD
Benign
17
DANN
Benign
0.94

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs1054637945; hg19: chr7-30634500; API