rs368402326
Variant summary
Our verdict is Likely benign. The variant received -1 ACMG points: 0P and 1B. BP4
The NM_033547.4(INTS4):c.2357G>A(p.Arg786Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000397 in 1,611,918 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_033547.4 missense
Scores
Clinical Significance
Conservation
Publications
Genome browser will be placed here
ACMG classification
Our verdict: Likely_benign. The variant received -1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000592 AC: 9AN: 152106Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.000122 AC: 30AN: 245984 AF XY: 0.0000899 show subpopulations
GnomAD4 exome AF: 0.0000377 AC: 55AN: 1459694Hom.: 0 Cov.: 31 AF XY: 0.0000317 AC XY: 23AN XY: 726152 show subpopulations
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152224Hom.: 0 Cov.: 32 AF XY: 0.0000941 AC XY: 7AN XY: 74424 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2357G>A (p.R786Q) alteration is located in exon 20 (coding exon 20) of the INTS4 gene. This alteration results from a G to A substitution at nucleotide position 2357, causing the arginine (R) at amino acid position 786 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