11-126293010-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001318777.2(TIRAP):āc.601G>Cā(p.Gly201Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000681 in 1,614,202 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TIRAP | NM_001318777.2 | c.601G>C | p.Gly201Arg | missense_variant | Exon 4 of 5 | ENST00000392679.6 | NP_001305706.1 | |
TIRAP | NM_001318776.2 | c.601G>C | p.Gly201Arg | missense_variant | Exon 4 of 4 | NP_001305705.1 | ||
TIRAP | NM_148910.3 | c.601G>C | p.Gly201Arg | missense_variant | Exon 5 of 5 | NP_683708.1 | ||
TIRAP | NM_001039661.2 | c.601G>C | p.Gly201Arg | missense_variant | Exon 5 of 6 | NP_001034750.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152204Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000360 AC: 9AN: 249724Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135466
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461880Hom.: 0 Cov.: 34 AF XY: 0.00000413 AC XY: 3AN XY: 727242
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152322Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74478
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.601G>C (p.G201R) alteration is located in exon 5 (coding exon 2) of the TIRAP gene. This alteration results from a G to C substitution at nucleotide position 601, causing the glycine (G) at amino acid position 201 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at