rs34236132
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_005741.5(ZNF263):c.1600G>A(p.Val534Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00122 in 1,613,590 control chromosomes in the GnomAD database, including 10 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_005741.5 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 |
---|---|---|---|---|---|---|---|
ZNF263 | NM_005741.5 | c.1600G>A | p.Val534Ile | missense_variant | 6/6 | ENST00000219069.6 | |
ZNF263 | NM_001411015.1 | c.1600G>A | p.Val534Ile | missense_variant | 6/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF263 | ENST00000219069.6 | c.1600G>A | p.Val534Ile | missense_variant | 6/6 | 1 | NM_005741.5 | P4 | |
ENST00000703449.1 | c.544G>A | p.Val182Ile | missense_variant | 2/2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00449 AC: 681AN: 151602Hom.: 7 Cov.: 32
GnomAD3 exomes AF: 0.00150 AC: 377AN: 251360Hom.: 2 AF XY: 0.00121 AC XY: 164AN XY: 135876
GnomAD4 exome AF: 0.000876 AC: 1280AN: 1461870Hom.: 3 Cov.: 32 AF XY: 0.000784 AC XY: 570AN XY: 727232
GnomAD4 genome ? AF: 0.00450 AC: 682AN: 151720Hom.: 7 Cov.: 32 AF XY: 0.00418 AC XY: 310AN XY: 74132
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at