19-23359483-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003430.4(ZNF91):c.3496T>A(p.Trp1166Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000745 in 1,611,136 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/20 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
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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.3496T>A | p.Trp1166Arg | missense_variant | 4/4 | ENST00000300619.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF91 | ENST00000300619.12 | c.3496T>A | p.Trp1166Arg | missense_variant | 4/4 | 1 | NM_003430.4 | P1 | |
ZNF91 | ENST00000397082.2 | c.3400T>A | p.Trp1134Arg | missense_variant | 3/3 | 2 | |||
ZNF91 | ENST00000599743.5 | c.253+14259T>A | intron_variant | 3 | |||||
ZNF91 | ENST00000596989.1 | n.370+14259T>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152082Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000121 AC: 3AN: 248712Hom.: 0 AF XY: 0.00000741 AC XY: 1AN XY: 134964
GnomAD4 exome AF: 0.00000343 AC: 5AN: 1459054Hom.: 0 Cov.: 27 AF XY: 0.00000413 AC XY: 3AN XY: 726032
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152082Hom.: 0 Cov.: 32 AF XY: 0.0000808 AC XY: 6AN XY: 74288
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 16, 2021 | The c.3496T>A (p.W1166R) alteration is located in exon 4 (coding exon 4) of the ZNF91 gene. This alteration results from a T to A substitution at nucleotide position 3496, causing the tryptophan (W) at amino acid position 1166 to be replaced by an arginine (R). 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