2-219382135-C-A
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_012100.4(DNPEP):c.941G>T(p.Gly314Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000938 in 1,609,586 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_012100.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152250Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000139 AC: 34AN: 245172Hom.: 0 AF XY: 0.000142 AC XY: 19AN XY: 133336
GnomAD4 exome AF: 0.0000913 AC: 133AN: 1457336Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 78AN XY: 725134
GnomAD4 genome AF: 0.000118 AC: 18AN: 152250Hom.: 0 Cov.: 33 AF XY: 0.0000941 AC XY: 7AN XY: 74388
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.941G>T (p.G314V) alteration is located in exon 11 (coding exon 11) of the DNPEP gene. This alteration results from a G to T substitution at nucleotide position 941, causing the glycine (G) at amino acid position 314 to be replaced by a valine (V). 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