1-32621909-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_178547.5(ZBTB8OS):c.457G>A(p.Val153Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000207 in 1,592,488 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_178547.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000107 AC: 16AN: 150222Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000171 AC: 4AN: 234142Hom.: 0 AF XY: 0.0000158 AC XY: 2AN XY: 126728
GnomAD4 exome AF: 0.0000118 AC: 17AN: 1442266Hom.: 1 Cov.: 31 AF XY: 0.0000126 AC XY: 9AN XY: 716918
GnomAD4 genome AF: 0.000107 AC: 16AN: 150222Hom.: 0 Cov.: 31 AF XY: 0.000109 AC XY: 8AN XY: 73128
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 30, 2024 | The c.493G>A (p.V165I) alteration is located in exon 7 (coding exon 7) of the ZBTB8OS gene. This alteration results from a G to A substitution at nucleotide position 493, causing the valine (V) at amino acid position 165 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at