16-83965067-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_182981.3(OSGIN1):āc.494T>Gā(p.Leu165Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000133 in 149,922 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_182981.3 missense
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.494T>G | p.Leu165Arg | missense_variant | Exon 6 of 6 | 1 | NM_182981.3 | ENSP00000376983.1 | ||
OSGIN1 | ENST00000361711.7 | c.494T>G | p.Leu165Arg | missense_variant | Exon 6 of 6 | 2 | ENSP00000355374.3 | |||
OSGIN1 | ENST00000343939.6 | n.1126T>G | non_coding_transcript_exon_variant | Exon 7 of 7 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000133 AC: 2AN: 149922Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000416 AC: 1AN: 240314Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 129768
GnomAD4 exome Cov.: 34
GnomAD4 genome AF: 0.0000133 AC: 2AN: 149922Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 73156
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.494T>G (p.L165R) alteration is located in exon 6 (coding exon 5) of the OSGIN1 gene. This alteration results from a T to G substitution at nucleotide position 494, causing the leucine (L) at amino acid position 165 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at