11-126292811-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001318777.2(TIRAP):āc.402C>Gā(p.Cys134Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,460,650 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TIRAP | NM_001318777.2 | c.402C>G | p.Cys134Trp | missense_variant | Exon 4 of 5 | ENST00000392679.6 | NP_001305706.1 | |
TIRAP | NM_001318776.2 | c.402C>G | p.Cys134Trp | missense_variant | Exon 4 of 4 | NP_001305705.1 | ||
TIRAP | NM_148910.3 | c.402C>G | p.Cys134Trp | missense_variant | Exon 5 of 5 | NP_683708.1 | ||
TIRAP | NM_001039661.2 | c.402C>G | p.Cys134Trp | missense_variant | Exon 5 of 6 | NP_001034750.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000403 AC: 1AN: 248378Hom.: 0 AF XY: 0.00000743 AC XY: 1AN XY: 134500
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460650Hom.: 0 Cov.: 34 AF XY: 0.00000138 AC XY: 1AN XY: 726582
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.402C>G (p.C134W) alteration is located in exon 5 (coding exon 2) of the TIRAP gene. This alteration results from a C to G substitution at nucleotide position 402, causing the cysteine (C) at amino acid position 134 to be replaced by a tryptophan (W). 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