2-158815811-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001017920.3(DAPL1):c.314G>A(p.Arg105Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000429 in 1,609,924 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DAPL1 | ENST00000309950.8 | c.314G>A | p.Arg105Gln | missense_variant | Exon 4 of 4 | 1 | NM_001017920.3 | ENSP00000309538.4 | ||
DAPL1 | ENST00000621326.4 | c.*28G>A | 3_prime_UTR_variant | Exon 5 of 5 | 1 | ENSP00000479872.1 | ||||
DAPL1 | ENST00000343761.4 | c.132+8696G>A | intron_variant | Intron 2 of 3 | 3 | ENSP00000385306.2 | ||||
DAPL1 | ENST00000409042.5 | c.207+8696G>A | intron_variant | Intron 3 of 4 | 4 | ENSP00000386422.1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152184Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000636 AC: 16AN: 251414Hom.: 0 AF XY: 0.0000883 AC XY: 12AN XY: 135884
GnomAD4 exome AF: 0.0000453 AC: 66AN: 1457740Hom.: 0 Cov.: 29 AF XY: 0.0000469 AC XY: 34AN XY: 725542
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152184Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74338
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.314G>A (p.R105Q) alteration is located in exon 4 (coding exon 4) of the DAPL1 gene. This alteration results from a G to A substitution at nucleotide position 314, causing the arginine (R) at amino acid position 105 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