rs1200826286
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM2PM5PP3_Strong
The ENST00000321149.7(DNAAF4):c.56T>C(p.Leu19Pro) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L19Q) has been classified as Likely pathogenic.
Frequency
Consequence
ENST00000321149.7 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAAF4 | NM_130810.4 | c.56T>C | p.Leu19Pro | missense_variant | 2/10 | ENST00000321149.7 | NP_570722.2 | |
DNAAF4-CCPG1 | NR_037923.1 | n.311T>C | non_coding_transcript_exon_variant | 1/16 | ||||
DNAAF4 | NM_001033560.2 | c.56T>C | p.Leu19Pro | missense_variant | 2/9 | NP_001028732.1 | ||
DNAAF4 | NM_001033559.3 | c.56T>C | p.Leu19Pro | missense_variant | 2/9 | NP_001028731.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAAF4 | ENST00000321149.7 | c.56T>C | p.Leu19Pro | missense_variant | 2/10 | 1 | NM_130810.4 | ENSP00000323275 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250336Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135350
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at