chr7-30594884-G-A
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBS1_SupportingBS2
The NM_002047.4(GARS1):c.-38G>A variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000153 in 1,501,554 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002047.4 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GARS1 | ENST00000389266 | c.-38G>A | 5_prime_UTR_variant | Exon 1 of 17 | 1 | NM_002047.4 | ENSP00000373918.3 | |||
GARS1 | ENST00000675651 | c.-38G>A | 5_prime_UTR_variant | Exon 1 of 17 | ENSP00000502513.1 | |||||
GARS1 | ENST00000675810 | c.-38G>A | 5_prime_UTR_variant | Exon 1 of 16 | ENSP00000502743.1 | |||||
GARS1 | ENST00000675693 | c.-38G>A | 5_prime_UTR_variant | Exon 1 of 18 | ENSP00000502174.1 | |||||
GARS1 | ENST00000674815 | c.-216G>A | 5_prime_UTR_variant | Exon 1 of 17 | ENSP00000502799.1 | |||||
GARS1 | ENST00000675051.1 | c.22-3912G>A | intron_variant | Intron 1 of 16 | ENSP00000502296.1 | |||||
GARS1 | ENST00000674616.1 | n.-38G>A | non_coding_transcript_exon_variant | Exon 1 of 18 | ENSP00000502408.1 | |||||
GARS1 | ENST00000674643.1 | n.-38G>A | non_coding_transcript_exon_variant | Exon 1 of 17 | ENSP00000501636.1 | |||||
GARS1 | ENST00000674737.1 | n.-38G>A | non_coding_transcript_exon_variant | Exon 1 of 18 | ENSP00000502464.1 | |||||
GARS1 | ENST00000674807.1 | n.-38G>A | non_coding_transcript_exon_variant | Exon 1 of 16 | ENSP00000502814.1 | |||||
GARS1 | ENST00000675529.1 | n.-38G>A | non_coding_transcript_exon_variant | Exon 1 of 18 | ENSP00000501655.1 | |||||
GARS1 | ENST00000675859.1 | n.-38G>A | non_coding_transcript_exon_variant | Exon 1 of 15 | ENSP00000502033.1 | |||||
GARS1 | ENST00000676088.1 | n.-38G>A | non_coding_transcript_exon_variant | Exon 1 of 19 | ENSP00000501884.1 | |||||
GARS1 | ENST00000676140.1 | n.-38G>A | non_coding_transcript_exon_variant | Exon 1 of 17 | ENSP00000502571.1 | |||||
GARS1 | ENST00000676210.1 | n.-38G>A | non_coding_transcript_exon_variant | Exon 1 of 18 | ENSP00000502373.1 | |||||
GARS1 | ENST00000676259.1 | n.-38G>A | non_coding_transcript_exon_variant | Exon 1 of 17 | ENSP00000501980.1 | |||||
GARS1 | ENST00000676403.1 | n.-38G>A | non_coding_transcript_exon_variant | Exon 1 of 16 | ENSP00000502681.1 | |||||
GARS1 | ENST00000674616.1 | n.-38G>A | 5_prime_UTR_variant | Exon 1 of 18 | ENSP00000502408.1 | |||||
GARS1 | ENST00000674643.1 | n.-38G>A | 5_prime_UTR_variant | Exon 1 of 17 | ENSP00000501636.1 | |||||
GARS1 | ENST00000674737.1 | n.-38G>A | 5_prime_UTR_variant | Exon 1 of 18 | ENSP00000502464.1 | |||||
GARS1 | ENST00000674807.1 | n.-38G>A | 5_prime_UTR_variant | Exon 1 of 16 | ENSP00000502814.1 | |||||
GARS1 | ENST00000675529.1 | n.-38G>A | 5_prime_UTR_variant | Exon 1 of 18 | ENSP00000501655.1 | |||||
GARS1 | ENST00000675859.1 | n.-38G>A | 5_prime_UTR_variant | Exon 1 of 15 | ENSP00000502033.1 | |||||
GARS1 | ENST00000676088.1 | n.-38G>A | 5_prime_UTR_variant | Exon 1 of 19 | ENSP00000501884.1 | |||||
GARS1 | ENST00000676140.1 | n.-38G>A | 5_prime_UTR_variant | Exon 1 of 17 | ENSP00000502571.1 | |||||
GARS1 | ENST00000676210.1 | n.-38G>A | 5_prime_UTR_variant | Exon 1 of 18 | ENSP00000502373.1 | |||||
GARS1 | ENST00000676259.1 | n.-38G>A | 5_prime_UTR_variant | Exon 1 of 17 | ENSP00000501980.1 | |||||
GARS1 | ENST00000676403.1 | n.-38G>A | 5_prime_UTR_variant | Exon 1 of 16 | ENSP00000502681.1 | |||||
GARS1 | ENST00000674851.1 | c.-252G>A | upstream_gene_variant | ENSP00000502451.1 | ||||||
GARS1 | ENST00000444666.6 | n.-38G>A | upstream_gene_variant | 3 | ENSP00000415447.2 | |||||
GARS1 | ENST00000676164.1 | n.-38G>A | upstream_gene_variant | ENSP00000501986.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152158Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000163 AC: 22AN: 1349278Hom.: 0 Cov.: 25 AF XY: 0.0000135 AC XY: 9AN XY: 667586
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152276Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74466
ClinVar
Submissions by phenotype
not provided Uncertain:1
The c.-38 G>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.-38 G>A variant is not observed in large population cohorts (1000 Genomes Consortium et al., 2015; Exome Variant Server) This variant is not in the Kozak consensus sequence, which plays a role in the initiation of protein translation. This substitution occurs at a position that is conserved. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at