rs558194656
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_182981.3(OSGIN1):c.714G>A(p.Trp238*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000138 in 1,450,338 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.
Frequency
Consequence
NM_182981.3 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OSGIN1 | ENST00000393306.6 | c.714G>A | p.Trp238* | stop_gained | Exon 6 of 6 | 1 | NM_182981.3 | ENSP00000376983.1 | ||
OSGIN1 | ENST00000361711.7 | c.714G>A | p.Trp238* | stop_gained | Exon 6 of 6 | 2 | ENSP00000355374.3 | |||
OSGIN1 | ENST00000343939.6 | n.1346G>A | non_coding_transcript_exon_variant | Exon 7 of 7 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000138 AC: 2AN: 1450338Hom.: 0 Cov.: 34 AF XY: 0.00000278 AC XY: 2AN XY: 720042
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at