rs35262183
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_207317.3(ZNF474):āc.821C>Gā(p.Ser274Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.286 in 1,613,954 control chromosomes in the GnomAD database, including 68,653 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_207317.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF474 | NM_207317.3 | c.821C>G | p.Ser274Cys | missense_variant | 2/2 | ENST00000296600.5 | NP_997200.1 | |
ZNF474-AS1 | XR_007058915.1 | n.271+1813G>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF474 | ENST00000296600.5 | c.821C>G | p.Ser274Cys | missense_variant | 2/2 | 1 | NM_207317.3 | ENSP00000296600.4 |
Frequencies
GnomAD3 genomes AF: 0.242 AC: 36749AN: 151978Hom.: 5039 Cov.: 32
GnomAD3 exomes AF: 0.287 AC: 72206AN: 251252Hom.: 10933 AF XY: 0.296 AC XY: 40139AN XY: 135784
GnomAD4 exome AF: 0.291 AC: 424986AN: 1461858Hom.: 63620 Cov.: 64 AF XY: 0.294 AC XY: 213972AN XY: 727220
GnomAD4 genome AF: 0.241 AC: 36729AN: 152096Hom.: 5033 Cov.: 32 AF XY: 0.248 AC XY: 18469AN XY: 74336
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at