rs61731736
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_014797.3(ZBTB24):c.1672G>A(p.Asp558Asn) variant causes a missense change. The variant allele was found at a frequency of 0.00269 in 1,614,196 control chromosomes in the GnomAD database, including 12 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_014797.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00238 AC: 362AN: 152186Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00261 AC: 654AN: 250798Hom.: 3 AF XY: 0.00258 AC XY: 349AN XY: 135500
GnomAD4 exome AF: 0.00272 AC: 3983AN: 1461892Hom.: 11 Cov.: 33 AF XY: 0.00268 AC XY: 1952AN XY: 727246
GnomAD4 genome AF: 0.00238 AC: 362AN: 152304Hom.: 1 Cov.: 32 AF XY: 0.00208 AC XY: 155AN XY: 74482
ClinVar
Submissions by phenotype
not provided Benign:3
ZBTB24: BP4, BS2 -
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Immunodeficiency-centromeric instability-facial anomalies syndrome 2 Benign:1
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ZBTB24-related disorder Benign:1
This variant is classified as likely 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