12-133156546-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015394.5(ZNF10):āc.1300G>Cā(p.Glu434Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,461,516 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_015394.5 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 |
---|---|---|---|---|---|---|---|
ZNF10 | NM_015394.5 | c.1300G>C | p.Glu434Gln | missense_variant | 5/5 | ENST00000248211.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF10 | ENST00000248211.11 | c.1300G>C | p.Glu434Gln | missense_variant | 5/5 | 1 | NM_015394.5 | P1 | |
ZNF10 | ENST00000426665.6 | c.1300G>C | p.Glu434Gln | missense_variant | 5/5 | 1 | P1 | ||
ZNF10 | ENST00000402932.2 | c.898G>C | p.Glu300Gln | missense_variant | 5/5 | 1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461516Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727052
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 29, 2023 | The c.1300G>C (p.E434Q) alteration is located in exon 5 (coding exon 4) of the ZNF10 gene. This alteration results from a G to C substitution at nucleotide position 1300, causing the glutamic acid (E) at amino acid position 434 to be replaced by a glutamine (Q). 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
Publications
No publications associated with this variant yet.