NM_138467.3:c.499A>G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_138467.3(TYW3):c.499A>G(p.Ile167Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_138467.3 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 |
---|---|---|---|---|---|---|---|---|
TYW3 | NM_138467.3 | c.499A>G | p.Ile167Val | missense_variant | Exon 5 of 6 | ENST00000370867.8 | NP_612476.1 | |
TYW3 | NM_001162916.2 | c.400A>G | p.Ile134Val | missense_variant | Exon 4 of 5 | NP_001156388.1 | ||
TYW3 | XM_006710347.3 | c.499A>G | p.Ile167Val | missense_variant | Exon 5 of 7 | XP_006710410.1 | ||
TYW3 | NR_027962.2 | n.705A>G | non_coding_transcript_exon_variant | Exon 5 of 6 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.499A>G (p.I167V) alteration is located in exon 5 (coding exon 5) of the TYW3 gene. This alteration results from a A to G substitution at nucleotide position 499, causing the isoleucine (I) at amino acid position 167 to be replaced by a valine (V). 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
Publications
No publications associated with this variant yet.