rs201218843
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_173799.4(TIGIT):c.434C>A(p.Ala145Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,080 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 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 variant affecting the same amino acid position, but resulting in a different missense (i.e. A145V) has been classified as Uncertain significance.
Frequency
Consequence
NM_173799.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TIGIT | NM_173799.4 | c.434C>A | p.Ala145Asp | missense_variant | Exon 3 of 4 | ENST00000383671.8 | NP_776160.2 | |
TIGIT | XM_047447671.1 | c.434C>A | p.Ala145Asp | missense_variant | Exon 3 of 4 | XP_047303627.1 | ||
TIGIT | XM_047447672.1 | c.71C>A | p.Ala24Asp | missense_variant | Exon 2 of 3 | XP_047303628.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461080Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726866
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at