19-12074127-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001136501.3(ZNF844):c.100C>G(p.Gln34Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000329 in 152,136 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_001136501.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF844 | ENST00000439326.8 | c.100C>G | p.Gln34Glu | missense_variant | Exon 2 of 4 | 1 | NM_001136501.3 | ENSP00000392024.3 | ||
ENSG00000286098 | ENST00000652448.1 | c.4C>G | p.Gln2Glu | missense_variant | Exon 3 of 5 | ENSP00000498410.1 | ||||
ZNF844 | ENST00000441304.2 | c.100C>G | p.Gln34Glu | missense_variant | Exon 2 of 3 | 1 | ENSP00000402097.2 | |||
ZNF844 | ENST00000550826.1 | c.-280-1185C>G | intron_variant | Intron 1 of 1 | 3 | ENSP00000448588.1 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152136Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251102Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135784
GnomAD4 exome Cov.: 31
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152136Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74326
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.100C>G (p.Q34E) alteration is located in exon 2 (coding exon 2) of the ZNF844 gene. This alteration results from a C to G substitution at nucleotide position 100, causing the glutamine (Q) at amino acid position 34 to be replaced by a glutamic acid (E). 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