rs669561
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032575.3(GLIS2):c.864T>A(p.Tyr288Ter) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. Y288Y) has been classified as Benign.
Frequency
Consequence
NM_032575.3 stop_gained
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 |
---|---|---|---|---|---|---|---|
GLIS2 | NM_032575.3 | c.864T>A | p.Tyr288Ter | stop_gained | 7/7 | ENST00000433375.2 | |
GLIS2 | NM_001318918.2 | c.864T>A | p.Tyr288Ter | stop_gained | 8/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GLIS2 | ENST00000433375.2 | c.864T>A | p.Tyr288Ter | stop_gained | 7/7 | 1 | NM_032575.3 | P1 | |
ENST00000574705.1 | n.1006A>T | non_coding_transcript_exon_variant | 1/1 | ||||||
GLIS2 | ENST00000262366.7 | c.864T>A | p.Tyr288Ter | stop_gained | 8/8 | 2 | P1 | ||
PAM16 | ENST00000577031.5 | c.291+4107A>T | intron_variant | 4 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 exome Cov.: 71
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at