chr10-992549-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_012341.3(GTPBP4):c.109C>T(p.His37Tyr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. H37D) has been classified as Uncertain significance.
Frequency
Consequence
NM_012341.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GTPBP4 | ENST00000360803.9 | c.109C>T | p.His37Tyr | missense_variant | Exon 2 of 17 | 1 | NM_012341.3 | ENSP00000354040.4 | ||
GTPBP4 | ENST00000360059 | c.-33C>T | 5_prime_UTR_variant | Exon 2 of 5 | 5 | ENSP00000353168.5 | ||||
GTPBP4 | ENST00000491635.1 | n.127C>T | non_coding_transcript_exon_variant | Exon 2 of 11 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 27
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at