7-726770-A-AG
Variant summary
Our verdict is Likely pathogenic. Variant got 7 ACMG points: 7P and 0B. PVS1_StrongPM2PP5
The NM_017802.4(DNAAF5):c.55dup(p.Ala19GlyfsTer5) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000659 in 151,848 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Pathogenic (no stars). Synonymous variant affecting the same amino acid position (i.e. E17E) has been classified as Likely benign.
Frequency
Consequence
NM_017802.4 frameshift
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_pathogenic. Variant got 7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAAF5 | NM_017802.4 | c.55dup | p.Ala19GlyfsTer5 | frameshift_variant | 1/13 | ENST00000297440.11 | |
PRKAR1B | NM_001164760.2 | c.-23+439_-23+440insC | intron_variant | ENST00000537384.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAAF5 | ENST00000297440.11 | c.55dup | p.Ala19GlyfsTer5 | frameshift_variant | 1/13 | 1 | NM_017802.4 | P1 | |
PRKAR1B | ENST00000537384.6 | c.-23+439_-23+440insC | intron_variant | 5 | NM_001164760.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000659 AC: 1AN: 151848Hom.: 0 Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1109778Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 528736
GnomAD4 genome ? AF: 0.00000659 AC: 1AN: 151848Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74182
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia 18 Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Sep 12, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at