19-23359956-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003430.4(ZNF91):c.3023C>T(p.Thr1008Ile) 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 1,610,032 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003430.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF91 | NM_003430.4 | c.3023C>T | p.Thr1008Ile | missense_variant | 4/4 | ENST00000300619.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF91 | ENST00000300619.12 | c.3023C>T | p.Thr1008Ile | missense_variant | 4/4 | 1 | NM_003430.4 | P1 | |
ZNF91 | ENST00000397082.2 | c.2927C>T | p.Thr976Ile | missense_variant | 3/3 | 2 | |||
ZNF91 | ENST00000599743.5 | c.253+13786C>T | intron_variant | 3 | |||||
ZNF91 | ENST00000596989.1 | n.370+13786C>T | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.00000665 AC: 1AN: 150484Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 249998Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135596
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1459548Hom.: 0 Cov.: 83 AF XY: 0.00000138 AC XY: 1AN XY: 726114
GnomAD4 genome AF: 0.00000665 AC: 1AN: 150484Hom.: 0 Cov.: 34 AF XY: 0.0000136 AC XY: 1AN XY: 73460
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at