NM_003430.4:c.2998G>A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003430.4(ZNF91):c.2998G>A(p.Gly1000Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000124 in 1,613,656 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G1000D) has been classified 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
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF91 | ENST00000300619.12 | c.2998G>A | p.Gly1000Ser | missense_variant | Exon 4 of 4 | 1 | NM_003430.4 | ENSP00000300619.6 | ||
ZNF91 | ENST00000397082.2 | c.2902G>A | p.Gly968Ser | missense_variant | Exon 3 of 3 | 2 | ENSP00000380272.2 | |||
ZNF91 | ENST00000599743.5 | c.253+13761G>A | intron_variant | Intron 3 of 3 | 3 | ENSP00000468867.1 | ||||
ZNF91 | ENST00000596989.1 | n.370+13761G>A | intron_variant | Intron 3 of 3 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152148Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 249692Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135468
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1461390Hom.: 0 Cov.: 83 AF XY: 0.00000688 AC XY: 5AN XY: 727016
GnomAD4 genome AF: 0.0000722 AC: 11AN: 152266Hom.: 0 Cov.: 34 AF XY: 0.0000940 AC XY: 7AN XY: 74450
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2998G>A (p.G1000S) alteration is located in exon 4 (coding exon 4) of the ZNF91 gene. This alteration results from a G to A substitution at nucleotide position 2998, causing the glycine (G) at amino acid position 1000 to be replaced by a serine (S). 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