16-83960596-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_182981.3(OSGIN1):c.232G>A(p.Glu78Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000496 in 1,613,348 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152174Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000399 AC: 10AN: 250516Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135696
GnomAD4 exome AF: 0.0000534 AC: 78AN: 1461056Hom.: 0 Cov.: 32 AF XY: 0.0000605 AC XY: 44AN XY: 726800
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152292Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74456
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.232G>A (p.E78K) alteration is located in exon 4 (coding exon 3) of the OSGIN1 gene. This alteration results from a G to A substitution at nucleotide position 232, causing the glutamic acid (E) at amino acid position 78 to be replaced by a lysine (K). 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