8-144881901-C-T
Variant summary
Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001109689.4(ZNF250):c.1282G>A(p.Val428Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000211 in 1,612,212 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/22 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001109689.4 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000333 AC: 5AN: 150192Hom.: 0 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.0000557 AC: 14AN: 251454 AF XY: 0.0000441 show subpopulations
GnomAD4 exome AF: 0.0000198 AC: 29AN: 1461892Hom.: 0 Cov.: 31 AF XY: 0.0000234 AC XY: 17AN XY: 727248 show subpopulations
GnomAD4 genome AF: 0.0000333 AC: 5AN: 150320Hom.: 0 Cov.: 33 AF XY: 0.0000272 AC XY: 2AN XY: 73458 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1297G>A (p.V433I) alteration is located in exon 6 (coding exon 5) of the ZNF250 gene. This alteration results from a G to A substitution at nucleotide position 1297, causing the valine (V) at amino acid position 433 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