11-126292919-G-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6BP7
The NM_001318777.2(TIRAP):c.510G>A(p.Gly170Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000322 in 1,613,816 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 Likely benign (no stars).
Frequency
Consequence
NM_001318777.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TIRAP | NM_001318777.2 | c.510G>A | p.Gly170Gly | synonymous_variant | Exon 4 of 5 | ENST00000392679.6 | NP_001305706.1 | |
TIRAP | NM_001318776.2 | c.510G>A | p.Gly170Gly | synonymous_variant | Exon 4 of 4 | NP_001305705.1 | ||
TIRAP | NM_148910.3 | c.510G>A | p.Gly170Gly | synonymous_variant | Exon 5 of 5 | NP_683708.1 | ||
TIRAP | NM_001039661.2 | c.510G>A | p.Gly170Gly | synonymous_variant | Exon 5 of 6 | NP_001034750.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000217 AC: 33AN: 152194Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000200 AC: 5AN: 250006Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135276
GnomAD4 exome AF: 0.0000130 AC: 19AN: 1461504Hom.: 0 Cov.: 34 AF XY: 0.0000138 AC XY: 10AN XY: 727024
GnomAD4 genome AF: 0.000217 AC: 33AN: 152312Hom.: 0 Cov.: 32 AF XY: 0.000175 AC XY: 13AN XY: 74490
ClinVar
Submissions by phenotype
TIRAP-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at