14-20452091-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_017807.4(OSGEP):c.294A>T(p.Gln98His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000186 in 1,613,454 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. Q98Q) has been classified as Benign.
Frequency
Consequence
NM_017807.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OSGEP | NM_017807.4 | c.294A>T | p.Gln98His | missense_variant | 3/11 | ENST00000206542.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OSGEP | ENST00000206542.9 | c.294A>T | p.Gln98His | missense_variant | 3/11 | 1 | NM_017807.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151950Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250734Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135492
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461504Hom.: 0 Cov.: 47 AF XY: 0.00000138 AC XY: 1AN XY: 727048
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151950Hom.: 0 Cov.: 32 AF XY: 0.0000270 AC XY: 2AN XY: 74198
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at