4-184097271-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_153343.4(ENPP6):c.1091G>A(p.Arg364Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000892 in 1,614,048 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_153343.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000184 AC: 28AN: 152170Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000163 AC: 41AN: 251344Hom.: 0 AF XY: 0.000155 AC XY: 21AN XY: 135852
GnomAD4 exome AF: 0.0000794 AC: 116AN: 1461878Hom.: 1 Cov.: 30 AF XY: 0.0000756 AC XY: 55AN XY: 727246
GnomAD4 genome AF: 0.000184 AC: 28AN: 152170Hom.: 0 Cov.: 32 AF XY: 0.000229 AC XY: 17AN XY: 74338
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1091G>A (p.R364Q) alteration is located in exon 7 (coding exon 7) of the ENPP6 gene. This alteration results from a G to A substitution at nucleotide position 1091, causing the arginine (R) at amino acid position 364 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