NM_182981.3:c.299G>T
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_182981.3(OSGIN1):c.299G>T(p.Gly100Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000136 in 1,613,498 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a pathogenic 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_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152220Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 250642Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135776
GnomAD4 exome AF: 0.0000137 AC: 20AN: 1461278Hom.: 1 Cov.: 32 AF XY: 0.0000248 AC XY: 18AN XY: 726912
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152220Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74354
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.299G>T (p.G100V) alteration is located in exon 4 (coding exon 3) of the OSGIN1 gene. This alteration results from a G to T substitution at nucleotide position 299, causing the glycine (G) at amino acid position 100 to be replaced by a valine (V). 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