chr17-11598569-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001372.4(DNAH9):c.71G>A(p.Arg24Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000207 in 1,253,888 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R24G) has been classified as Uncertain significance.
Frequency
Consequence
NM_001372.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH9 | NM_001372.4 | c.71G>A | p.Arg24Gln | missense_variant | 1/69 | ENST00000262442.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH9 | ENST00000262442.9 | c.71G>A | p.Arg24Gln | missense_variant | 1/69 | 1 | NM_001372.4 | P1 | |
DNAH9 | ENST00000579406.1 | n.98G>A | non_coding_transcript_exon_variant | 1/8 | 1 | ||||
DNAH9 | ENST00000454412.6 | c.71G>A | p.Arg24Gln | missense_variant | 1/68 | 5 | |||
DNAH9 | ENST00000579828.5 | c.71G>A | p.Arg24Gln | missense_variant | 1/4 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.0000207 AC: 26AN: 1253888Hom.: 0 Cov.: 33 AF XY: 0.0000228 AC XY: 14AN XY: 613040
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | May 18, 2023 | This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt DNAH9 protein function. This variant has not been reported in the literature in individuals affected with DNAH9-related conditions. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 24 of the DNAH9 protein (p.Arg24Gln). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at