16-4332336-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032575.3(GLIS2):āc.56C>Gā(p.Ala19Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000124 in 1,613,096 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_032575.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GLIS2 | ENST00000433375.2 | c.56C>G | p.Ala19Gly | missense_variant | Exon 2 of 7 | 1 | NM_032575.3 | ENSP00000395547.1 | ||
GLIS2 | ENST00000262366.7 | c.56C>G | p.Ala19Gly | missense_variant | Exon 3 of 8 | 2 | ENSP00000262366.3 | |||
PAM16 | ENST00000577031.5 | c.292-562G>C | intron_variant | Intron 4 of 4 | 4 | ENSP00000459113.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152196Hom.: 0 Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460900Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 726746
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152196Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74360
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at