chr19-52065448-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001136499.2(ZNF841):āc.2434C>Gā(p.Gln812Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000186 in 1,613,758 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001136499.2 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 |
---|---|---|---|---|---|---|---|
ZNF841 | NM_001136499.2 | c.2434C>G | p.Gln812Glu | missense_variant | 7/7 | ENST00000594440.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF841 | ENST00000594440.6 | c.2434C>G | p.Gln812Glu | missense_variant | 7/7 | 3 | NM_001136499.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000921 AC: 14AN: 151944Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000360 AC: 9AN: 250190Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135658
GnomAD4 exome AF: 0.0000109 AC: 16AN: 1461814Hom.: 0 Cov.: 31 AF XY: 0.0000110 AC XY: 8AN XY: 727204
GnomAD4 genome AF: 0.0000921 AC: 14AN: 151944Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74212
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 04, 2023 | The c.2434C>G (p.Q812E) alteration is located in exon 7 (coding exon 4) of the ZNF841 gene. This alteration results from a C to G substitution at nucleotide position 2434, causing the glutamine (Q) at amino acid position 812 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