rs201654193
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_ModerateBS1_SupportingBS2
The NM_001206927.2(DNAH8):c.3215G>A(p.Arg1072Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000238 in 1,564,054 control chromosomes in the GnomAD database, including 3 homozygotes. 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. R1072W) has been classified as Uncertain significance.
Frequency
Consequence
NM_001206927.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH8 | NM_001206927.2 | c.3215G>A | p.Arg1072Gln | missense_variant | 24/93 | ENST00000327475.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH8 | ENST00000327475.11 | c.3215G>A | p.Arg1072Gln | missense_variant | 24/93 | 5 | NM_001206927.2 | P2 | |
DNAH8 | ENST00000359357.7 | c.2564G>A | p.Arg855Gln | missense_variant | 22/91 | 2 | A2 | ||
DNAH8 | ENST00000449981.6 | c.3215G>A | p.Arg1072Gln | missense_variant | 23/82 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.000243 AC: 37AN: 151962Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000275 AC: 61AN: 221994Hom.: 0 AF XY: 0.000324 AC XY: 39AN XY: 120496
GnomAD4 exome AF: 0.000238 AC: 336AN: 1411976Hom.: 2 Cov.: 29 AF XY: 0.000233 AC XY: 163AN XY: 700060
GnomAD4 genome ? AF: 0.000243 AC: 37AN: 152078Hom.: 1 Cov.: 32 AF XY: 0.000175 AC XY: 13AN XY: 74374
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Jan 24, 2024 | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1072 of the DNAH8 protein (p.Arg1072Gln). This variant is present in population databases (rs201654193, gnomAD 0.06%). This missense change has been observed in individual(s) with clinical features of primary ciliary dyskinesia (PMID: 31213628). ClinVar contains an entry for this variant (Variation ID: 525423). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at