rs372134073
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001039141.3(TRIOBP):c.1283C>A(p.Pro428His) variant causes a missense 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. 14/21 in silico tools predict a benign outcome for this variant. 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. P428R) has been classified as Uncertain significance.
Frequency
Consequence
NM_001039141.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRIOBP | NM_001039141.3 | c.1283C>A | p.Pro428His | missense_variant | 7/24 | ENST00000644935.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRIOBP | ENST00000644935.1 | c.1283C>A | p.Pro428His | missense_variant | 7/24 | NM_001039141.3 | A2 | ||
TRIOBP | ENST00000492485.5 | n.1217C>A | non_coding_transcript_exon_variant | 5/5 | 1 | ||||
TRIOBP | ENST00000344404.10 | c.*766C>A | 3_prime_UTR_variant, NMD_transcript_variant | 5/22 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 27
GnomAD4 exome Cov.: 56
GnomAD4 genome ? Cov.: 27
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at