rs7932976
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_001318777.2(TIRAP):c.589G>A(p.Val197Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00175 in 1,614,176 control chromosomes in the GnomAD database, including 28 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 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 nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001318777.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TIRAP | NM_001318777.2 | c.589G>A | p.Val197Ile | missense_variant | 4/5 | ENST00000392679.6 | |
TIRAP | NM_001318776.2 | c.589G>A | p.Val197Ile | missense_variant | 4/4 | ||
TIRAP | NM_148910.3 | c.589G>A | p.Val197Ile | missense_variant | 5/5 | ||
TIRAP | NM_001039661.2 | c.589G>A | p.Val197Ile | missense_variant | 5/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TIRAP | ENST00000392679.6 | c.589G>A | p.Val197Ile | missense_variant | 4/5 | 2 | NM_001318777.2 | P1 | |
ENST00000533378.1 | n.416C>T | non_coding_transcript_exon_variant | 2/2 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.00754 AC: 1147AN: 152208Hom.: 12 Cov.: 33
GnomAD3 exomes AF: 0.00231 AC: 577AN: 249838Hom.: 6 AF XY: 0.00176 AC XY: 238AN XY: 135502
GnomAD4 exome AF: 0.00114 AC: 1668AN: 1461850Hom.: 14 Cov.: 34 AF XY: 0.000971 AC XY: 706AN XY: 727230
GnomAD4 genome ? AF: 0.00760 AC: 1158AN: 152326Hom.: 14 Cov.: 33 AF XY: 0.00698 AC XY: 520AN XY: 74494
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at