16-84145523-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BS1_Supporting
The NM_178452.6(DNAAF1):c.83C>T(p.Ala28Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000081 in 1,554,882 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/23 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_178452.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAAF1 | NM_178452.6 | c.83C>T | p.Ala28Val | missense_variant | 1/12 | ENST00000378553.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAAF1 | ENST00000378553.10 | c.83C>T | p.Ala28Val | missense_variant | 1/12 | 1 | NM_178452.6 | P1 | |
DNAAF1 | ENST00000567918.5 | c.83C>T | p.Ala28Val | missense_variant, NMD_transcript_variant | 1/7 | 1 | |||
DNAAF1 | ENST00000570298.5 | n.237C>T | non_coding_transcript_exon_variant | 1/11 | 2 | ||||
DNAAF1 | ENST00000563093.5 | c.83C>T | p.Ala28Val | missense_variant, NMD_transcript_variant | 1/11 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 152090Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000508 AC: 8AN: 157550Hom.: 0 AF XY: 0.0000479 AC XY: 4AN XY: 83482
GnomAD4 exome AF: 0.0000877 AC: 123AN: 1402792Hom.: 0 Cov.: 31 AF XY: 0.0000780 AC XY: 54AN XY: 692318
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 152090Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74286
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 27, 2023 | The c.83C>T (p.A28V) alteration is located in exon 1 (coding exon 1) of the DNAAF1 gene. This alteration results from a C to T substitution at nucleotide position 83, causing the alanine (A) at amino acid position 28 to be replaced by a valine (V). 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