rs1235128564
Variant summary
Our verdict is Pathogenic. Variant got 12 ACMG points: 12P and 0B. PVS1PS1_ModeratePM2
The NM_032620.4(GTPBP3):āc.1A>Cā(p.Met1?) variant causes a initiator codon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000171 in 1,172,294 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_032620.4 initiator_codon
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GTPBP3 | NM_032620.4 | c.1A>C | p.Met1? | initiator_codon_variant | Exon 1 of 9 | ENST00000324894.13 | NP_116009.2 | |
GTPBP3 | NM_133644.4 | c.1A>C | p.Met1? | initiator_codon_variant | Exon 1 of 8 | NP_598399.2 | ||
GTPBP3 | NM_001128855.3 | c.1A>C | p.Met1? | initiator_codon_variant | Exon 1 of 9 | NP_001122327.1 | ||
GTPBP3 | NM_001195422.1 | c.120-396A>C | intron_variant | Intron 1 of 8 | NP_001182351.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000171 AC: 2AN: 1172294Hom.: 0 Cov.: 30 AF XY: 0.00000357 AC XY: 2AN XY: 559654
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.