rs535173722
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001145440.3(TYW1B):c.472G>T(p.Val158Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000821 in 1,461,740 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. V158M) has been classified as Uncertain significance.
Frequency
Consequence
NM_001145440.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TYW1B | NM_001145440.3 | c.472G>T | p.Val158Leu | missense_variant | Exon 5 of 14 | ENST00000620995.5 | NP_001138912.2 | |
TYW1B | NM_001412179.1 | c.472G>T | p.Val158Leu | missense_variant | Exon 5 of 12 | NP_001399108.1 | ||
TYW1B | NM_001412180.1 | c.472G>T | p.Val158Leu | missense_variant | Exon 5 of 11 | NP_001399109.1 | ||
TYW1B | NM_001412181.1 | c.472G>T | p.Val158Leu | missense_variant | Exon 5 of 5 | NP_001399110.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TYW1B | ENST00000620995.5 | c.472G>T | p.Val158Leu | missense_variant | Exon 5 of 14 | 1 | NM_001145440.3 | ENSP00000482502.1 | ||
TYW1B | ENST00000612372.4 | c.238-4795G>T | intron_variant | Intron 3 of 11 | 1 | ENSP00000480534.1 | ||||
TYW1B | ENST00000610600.1 | c.277G>T | p.Val93Leu | missense_variant | Exon 4 of 8 | 2 | ENSP00000484480.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461740Hom.: 0 Cov.: 87 AF XY: 0.00000963 AC XY: 7AN XY: 727148
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.