rs373668992
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_148910.3(TIRAP):āc.682T>Cā(p.Ser228Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000248 in 1,613,430 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/18 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. S228A) has been classified as Likely benign.
Frequency
Consequence
NM_148910.3 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TIRAP | NM_001318777.2 | c.646+36T>C | intron_variant | Intron 4 of 4 | ENST00000392679.6 | NP_001305706.1 | ||
TIRAP | NM_001318776.2 | c.682T>C | p.Ser228Pro | missense_variant | Exon 4 of 4 | NP_001305705.1 | ||
TIRAP | NM_148910.3 | c.682T>C | p.Ser228Pro | missense_variant | Exon 5 of 5 | NP_683708.1 | ||
TIRAP | NM_001039661.2 | c.646+36T>C | intron_variant | Intron 5 of 5 | NP_001034750.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152220Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000806 AC: 2AN: 248012Hom.: 0 AF XY: 0.00000742 AC XY: 1AN XY: 134686
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461210Hom.: 0 Cov.: 34 AF XY: 0.00000275 AC XY: 2AN XY: 726916
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152220Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74362
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at