X-48059201-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001282201.2(ZNF630):c.1241G>A(p.Arg414Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000312 in 1,205,695 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 114 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R414W) has been classified 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: 0.000154 AC: 17AN: 110538Hom.: 0 Cov.: 23 AF XY: 0.0000604 AC XY: 2AN XY: 33120
GnomAD3 exomes AF: 0.000138 AC: 25AN: 181700Hom.: 0 AF XY: 0.000196 AC XY: 13AN XY: 66378
GnomAD4 exome AF: 0.000328 AC: 359AN: 1095157Hom.: 0 Cov.: 35 AF XY: 0.000311 AC XY: 112AN XY: 360615
GnomAD4 genome AF: 0.000154 AC: 17AN: 110538Hom.: 0 Cov.: 23 AF XY: 0.0000604 AC XY: 2AN XY: 33120
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1241G>A (p.R414Q) 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 1241, causing the arginine (R) at amino acid position 414 to be replaced by a glutamine (Q). 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