19-12145469-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_145233.4(ZNF625):āc.947C>Gā(p.Ser316Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000132 in 151,804 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/18 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S316L) has been classified as Uncertain significance.
Frequency
Consequence
NM_145233.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF625 | NM_145233.4 | c.947C>G | p.Ser316Trp | missense_variant | Exon 4 of 4 | ENST00000439556.3 | NP_660276.2 | |
ZNF625 | NR_037801.2 | n.1119C>G | non_coding_transcript_exon_variant | Exon 4 of 4 | ||||
ZNF625-ZNF20 | NR_037802.1 | n.364+1926C>G | intron_variant | Intron 3 of 7 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151804Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251458Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135902
GnomAD4 exome Cov.: 29
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151804Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74112
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at