X-48059016-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001282201.2(ZNF630):c.1426G>A(p.Gly476Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000454 in 1,205,454 control chromosomes in the GnomAD database, including 7 homozygotes. There are 167 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001282201.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000263 AC: 29AN: 110189Hom.: 0 Cov.: 22 AF XY: 0.000244 AC XY: 8AN XY: 32779
GnomAD3 exomes AF: 0.000181 AC: 33AN: 182100Hom.: 0 AF XY: 0.000180 AC XY: 12AN XY: 66846
GnomAD4 exome AF: 0.000473 AC: 518AN: 1095210Hom.: 7 Cov.: 35 AF XY: 0.000441 AC XY: 159AN XY: 360676
GnomAD4 genome AF: 0.000263 AC: 29AN: 110244Hom.: 0 Cov.: 22 AF XY: 0.000244 AC XY: 8AN XY: 32844
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1426G>A (p.G476S) alteration is located in exon 5 (coding exon 4) of the ZNF630 gene. This alteration results from a G to A substitution at nucleotide position 1426, causing the glycine (G) at amino acid position 476 to be replaced by a serine (S). 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