1-209836859-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_014388.7(UTP25):c.710A>G(p.Lys237Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000669 in 1,613,588 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014388.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000401 AC: 61AN: 152152Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000104 AC: 26AN: 250656Hom.: 0 AF XY: 0.0000885 AC XY: 12AN XY: 135612
GnomAD4 exome AF: 0.0000308 AC: 45AN: 1461318Hom.: 0 Cov.: 31 AF XY: 0.0000316 AC XY: 23AN XY: 727002
GnomAD4 genome AF: 0.000414 AC: 63AN: 152270Hom.: 0 Cov.: 32 AF XY: 0.000363 AC XY: 27AN XY: 74464
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.710A>G (p.K237R) alteration is located in exon 6 (coding exon 6) of the DIEXF gene. This alteration results from a A to G substitution at nucleotide position 710, causing the lysine (K) at amino acid position 237 to be replaced by an arginine (R). 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