16-83965123-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_182981.3(OSGIN1):c.550G>A(p.Val184Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000205 in 1,613,272 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_182981.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OSGIN1 | NM_182981.3 | c.550G>A | p.Val184Ile | missense_variant | 6/6 | ENST00000393306.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OSGIN1 | ENST00000393306.6 | c.550G>A | p.Val184Ile | missense_variant | 6/6 | 1 | NM_182981.3 | P1 | |
OSGIN1 | ENST00000361711.7 | c.550G>A | p.Val184Ile | missense_variant | 6/6 | 2 | P1 | ||
OSGIN1 | ENST00000343939.6 | n.1182G>A | non_coding_transcript_exon_variant | 7/7 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152230Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000719 AC: 18AN: 250278Hom.: 0 AF XY: 0.0000664 AC XY: 9AN XY: 135600
GnomAD4 exome AF: 0.0000205 AC: 30AN: 1461042Hom.: 0 Cov.: 34 AF XY: 0.0000151 AC XY: 11AN XY: 726770
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152230Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74376
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at