rs1555223390
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 4P and 2B. PS1_ModeratePM2BP4_Moderate
The NM_016816.4(OAS1):c.592C>G(p.Leu198Val) 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. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Another nucleotide change resulting in same amino acid change has been previously reported as Likely pathogenicin UniProt.
Frequency
Consequence
NM_016816.4 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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OAS1 | NM_016816.4 | c.592C>G | p.Leu198Val | missense_variant | 3/6 | ENST00000202917.10 | NP_058132.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OAS1 | ENST00000202917.10 | c.592C>G | p.Leu198Val | missense_variant | 3/6 | 1 | NM_016816.4 | ENSP00000202917.5 |
Frequencies
GnomAD3 genomes Cov.: 28
GnomAD4 exome Cov.: 35
GnomAD4 genome Cov.: 28
ClinVar
Submissions by phenotype
Pulmonary alveolar proteinosis with hypogammaglobulinemia Pathogenic:1Uncertain:1Other:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Jul 07, 2022 | - - |
not provided, no assertion criteria provided | literature only | OMIM | Jul 05, 2018 | - - |
Uncertain significance, no assertion criteria provided | literature only | OMIM | Jul 07, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at