1-90916898-C-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_201269.3(ZNF644):c.3884G>A(p.Arg1295Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0004 in 1,614,134 control chromosomes in the GnomAD database, including 5 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_201269.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000506 AC: 77AN: 152142Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000835 AC: 210AN: 251428Hom.: 2 AF XY: 0.000817 AC XY: 111AN XY: 135896
GnomAD4 exome AF: 0.000389 AC: 568AN: 1461874Hom.: 4 Cov.: 31 AF XY: 0.000422 AC XY: 307AN XY: 727236
GnomAD4 genome AF: 0.000506 AC: 77AN: 152260Hom.: 1 Cov.: 32 AF XY: 0.000376 AC XY: 28AN XY: 74454
ClinVar
Submissions by phenotype
ZNF644-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at