7-149104127-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001001661.3(ZNF425):c.1744T>G(p.Phe582Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000124 in 1,612,982 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001001661.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF425 | NM_001001661.3 | c.1744T>G | p.Phe582Val | missense_variant | Exon 4 of 4 | ENST00000378061.7 | NP_001001661.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151978Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250726Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135578
GnomAD4 exome AF: 0.0000123 AC: 18AN: 1461004Hom.: 0 Cov.: 88 AF XY: 0.0000124 AC XY: 9AN XY: 726828
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151978Hom.: 0 Cov.: 34 AF XY: 0.0000135 AC XY: 1AN XY: 74234
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1744T>G (p.F582V) alteration is located in exon 4 (coding exon 4) of the ZNF425 gene. This alteration results from a T to G substitution at nucleotide position 1744, causing the phenylalanine (F) at amino acid position 582 to be replaced by a valine (V). 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