rs17810398
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001017920.3(DAPL1):c.135C>A(p.Phe45Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000206 in 1,456,200 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001017920.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DAPL1 | NM_001017920.3 | c.135C>A | p.Phe45Leu | missense_variant | 2/4 | ENST00000309950.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DAPL1 | ENST00000309950.8 | c.135C>A | p.Phe45Leu | missense_variant | 2/4 | 1 | NM_001017920.3 | P1 | |
DAPL1 | ENST00000621326.4 | c.135C>A | p.Phe45Leu | missense_variant | 2/5 | 1 | |||
DAPL1 | ENST00000343761.4 | c.63C>A | p.Phe21Leu | missense_variant | 1/4 | 3 | |||
DAPL1 | ENST00000409042.5 | c.135C>A | p.Phe45Leu | missense_variant | 2/5 | 4 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1456200Hom.: 0 Cov.: 30 AF XY: 0.00000276 AC XY: 2AN XY: 724086
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at