chr11-124617445-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_052959.3(PANX3):c.496C>A(p.Gln166Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000279 in 1,614,256 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_052959.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152270Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000557 AC: 14AN: 251472Hom.: 0 AF XY: 0.0000662 AC XY: 9AN XY: 135906
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1461868Hom.: 0 Cov.: 32 AF XY: 0.0000165 AC XY: 12AN XY: 727234
GnomAD4 genome AF: 0.000138 AC: 21AN: 152388Hom.: 0 Cov.: 33 AF XY: 0.000148 AC XY: 11AN XY: 74526
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.496C>A (p.Q166K) alteration is located in exon 3 (coding exon 3) of the PANX3 gene. This alteration results from a C to A substitution at nucleotide position 496, causing the glutamine (Q) at amino acid position 166 to be replaced by a lysine (K). 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