2-158804359-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001017920.3(DAPL1):c.136G>A(p.Glu46Lys) variant causes a missense change. The variant allele was found at a frequency of 0.000187 in 1,608,182 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001017920.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DAPL1 | ENST00000309950.8 | c.136G>A | p.Glu46Lys | missense_variant | Exon 2 of 4 | 1 | NM_001017920.3 | ENSP00000309538.4 | ||
DAPL1 | ENST00000621326.4 | c.136G>A | p.Glu46Lys | missense_variant | Exon 2 of 5 | 1 | ENSP00000479872.1 | |||
DAPL1 | ENST00000343761.4 | c.61G>A | p.Glu21Lys | missense_variant | Exon 1 of 4 | 3 | ENSP00000385306.2 | |||
DAPL1 | ENST00000409042.5 | c.136G>A | p.Glu46Lys | missense_variant | Exon 2 of 5 | 4 | ENSP00000386422.1 |
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152126Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000698 AC: 17AN: 243476Hom.: 0 AF XY: 0.0000533 AC XY: 7AN XY: 131434
GnomAD4 exome AF: 0.000199 AC: 290AN: 1456056Hom.: 0 Cov.: 29 AF XY: 0.000186 AC XY: 135AN XY: 724094
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152126Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74312
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.136G>A (p.E46K) alteration is located in exon 2 (coding exon 2) of the DAPL1 gene. This alteration results from a G to A substitution at nucleotide position 136, causing the glutamic acid (E) at amino acid position 46 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