2-219374881-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_012100.4(DNPEP):c.1381G>A(p.Val461Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0000489 in 1,614,054 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_012100.4 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: 0.0000329 AC: 5AN: 152188Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000401 AC: 10AN: 249296Hom.: 0 AF XY: 0.0000518 AC XY: 7AN XY: 135258
GnomAD4 exome AF: 0.0000506 AC: 74AN: 1461866Hom.: 0 Cov.: 34 AF XY: 0.0000468 AC XY: 34AN XY: 727224
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152188Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74342
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1381G>A (p.V461I) alteration is located in exon 14 (coding exon 14) of the DNPEP gene. This alteration results from a G to A substitution at nucleotide position 1381, causing the valine (V) at amino acid position 461 to be replaced by an isoleucine (I). 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