NM_001369.3:c.5272-16_5272-15dupTT
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1
The NM_001369.3(DNAH5):c.5272-16_5272-15dupTT variant causes a intron change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Genomes: 𝑓 0.015 ( 52 hom., cov: 0)
Exomes 𝑓: 0.019 ( 4 hom. )
Consequence
DNAH5
NM_001369.3 intron
NM_001369.3 intron
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 0.617
Genes affected
DNAH5 (HGNC:2950): (dynein axonemal heavy chain 5) This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -8 ACMG points.
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.129 is higher than 0.05.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH5 | ENST00000265104.5 | c.5272-15_5272-14insTT | intron_variant | Intron 32 of 78 | 1 | NM_001369.3 | ENSP00000265104.4 | |||
DNAH5 | ENST00000681290.1 | c.5227-15_5227-14insTT | intron_variant | Intron 32 of 78 | ENSP00000505288.1 |
Frequencies
GnomAD3 genomes AF: 0.0149 AC: 1561AN: 104512Hom.: 52 Cov.: 0
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GnomAD4 exome AF: 0.0188 AC: 9070AN: 483186Hom.: 4 Cov.: 0 AF XY: 0.0190 AC XY: 4974AN XY: 261124
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GnomAD4 genome AF: 0.0149 AC: 1560AN: 104506Hom.: 52 Cov.: 0 AF XY: 0.0163 AC XY: 768AN XY: 47190
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ClinVar
Significance: Uncertain significance
Submissions summary: Uncertain:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
Primary ciliary dyskinesia 3 Uncertain:1
Sep 22, 2024
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
Significance: Uncertain significance
Review Status: criteria provided, single submitter
Collection Method: clinical testing
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Computational scores
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at