rs764559568
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_007127.3(VIL1):āc.50C>Gā(p.Pro17Arg) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,854 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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. P17L) has been classified as Uncertain significance.
Frequency
Consequence
NM_007127.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
VIL1 | ENST00000248444.10 | c.50C>G | p.Pro17Arg | missense_variant | Exon 2 of 20 | 1 | NM_007127.3 | ENSP00000248444.5 | ||
VIL1 | ENST00000440053.1 | c.50C>G | p.Pro17Arg | missense_variant | Exon 1 of 9 | 1 | ENSP00000409270.1 | |||
VIL1 | ENST00000454069.5 | c.50C>G | p.Pro17Arg | missense_variant | Exon 2 of 6 | 3 | ENSP00000412657.1 | |||
VIL1 | ENST00000392114.6 | c.-184+4660C>G | intron_variant | Intron 1 of 14 | 2 | ENSP00000375962.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461854Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727234
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.