rs58632700
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_017908.4(ZNF446):c.1261C>T(p.Arg421Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000359 in 1,611,992 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts 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. R421Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_017908.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF446 | NM_017908.4 | c.1261C>T | p.Arg421Trp | missense_variant | 7/7 | ENST00000594369.6 | |
ZNF446 | NM_001304453.1 | c.802+615C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF446 | ENST00000594369.6 | c.1261C>T | p.Arg421Trp | missense_variant | 7/7 | 1 | NM_017908.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000382 AC: 58AN: 151658Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00101 AC: 250AN: 246740Hom.: 0 AF XY: 0.000772 AC XY: 104AN XY: 134690
GnomAD4 exome AF: 0.000357 AC: 521AN: 1460214Hom.: 2 Cov.: 33 AF XY: 0.000336 AC XY: 244AN XY: 726496
GnomAD4 genome ? AF: 0.000376 AC: 57AN: 151778Hom.: 0 Cov.: 32 AF XY: 0.000431 AC XY: 32AN XY: 74184
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at