rs760157209
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_138440.3(VASN):c.361C>G(p.Arg121Gly) 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. 15/21 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. R121C) has been classified as Uncertain significance.
Frequency
Consequence
NM_138440.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
VASN | ENST00000304735.4 | c.361C>G | p.Arg121Gly | missense_variant | Exon 2 of 2 | 1 | NM_138440.3 | ENSP00000306864.3 | ||
CORO7 | ENST00000251166.9 | c.785+6748G>C | intron_variant | Intron 9 of 27 | 1 | NM_024535.5 | ENSP00000251166.4 | |||
CORO7-PAM16 | ENST00000572467.5 | c.785+6748G>C | intron_variant | Intron 9 of 30 | 2 | ENSP00000460885.1 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 exome Cov.: 116
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at