11-77883873-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_033547.4(INTS4):c.2672G>A(p.Arg891Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000335 in 1,612,572 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_033547.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000658 AC: 10AN: 152068Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000201 AC: 5AN: 248658Hom.: 0 AF XY: 0.0000298 AC XY: 4AN XY: 134432
GnomAD4 exome AF: 0.0000301 AC: 44AN: 1460504Hom.: 0 Cov.: 31 AF XY: 0.0000330 AC XY: 24AN XY: 726406
GnomAD4 genome AF: 0.0000658 AC: 10AN: 152068Hom.: 0 Cov.: 32 AF XY: 0.0000808 AC XY: 6AN XY: 74256
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2672G>A (p.R891Q) alteration is located in exon 22 (coding exon 22) of the INTS4 gene. This alteration results from a G to A substitution at nucleotide position 2672, causing the arginine (R) at amino acid position 891 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