rs74937157
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001318777.2(TIRAP):c.400T>C(p.Cys134Arg) variant causes a missense change. The variant allele was found at a frequency of 0.000156 in 1,612,934 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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. C134W) has been classified as Uncertain significance.
Frequency
Consequence
NM_001318777.2 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 |
---|---|---|---|---|---|---|---|
TIRAP | NM_001318777.2 | c.400T>C | p.Cys134Arg | missense_variant | 4/5 | ENST00000392679.6 | |
TIRAP | NM_001318776.2 | c.400T>C | p.Cys134Arg | missense_variant | 4/4 | ||
TIRAP | NM_148910.3 | c.400T>C | p.Cys134Arg | missense_variant | 5/5 | ||
TIRAP | NM_001039661.2 | c.400T>C | p.Cys134Arg | missense_variant | 5/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TIRAP | ENST00000392679.6 | c.400T>C | p.Cys134Arg | missense_variant | 4/5 | 2 | NM_001318777.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000835 AC: 127AN: 152164Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000217 AC: 54AN: 248448Hom.: 0 AF XY: 0.000119 AC XY: 16AN XY: 134516
GnomAD4 exome AF: 0.0000856 AC: 125AN: 1460652Hom.: 0 Cov.: 34 AF XY: 0.0000716 AC XY: 52AN XY: 726574
GnomAD4 genome ? AF: 0.000834 AC: 127AN: 152282Hom.: 0 Cov.: 32 AF XY: 0.000886 AC XY: 66AN XY: 74468
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at