rs35337694
Positions:
- chr5-13841918-CAAAAAAAAAA-C
- chr5-13841918-CAAAAAAAAAA-CA
- chr5-13841918-CAAAAAAAAAA-CAAAA
- chr5-13841918-CAAAAAAAAAA-CAAAAA
- chr5-13841918-CAAAAAAAAAA-CAAAAAA
- chr5-13841918-CAAAAAAAAAA-CAAAAAAA
- chr5-13841918-CAAAAAAAAAA-CAAAAAAAA
- chr5-13841918-CAAAAAAAAAA-CAAAAAAAAA
- chr5-13841918-CAAAAAAAAAA-CAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAA-CAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAA-CAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAA-CAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAA-CAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAA-CAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAA-CAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAA-CAAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAGCAATAGTAAAAAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAA
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001369.3(DNAH5):c.5272-24_5272-15del variant causes a splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000082 in 488,008 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: not found (cov: 0)
Exomes 𝑓: 0.0000082 ( 0 hom. )
Consequence
DNAH5
NM_001369.3 splice_polypyrimidine_tract, intron
NM_001369.3 splice_polypyrimidine_tract, intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.37
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 Uncertain_significance. Variant got 2 ACMG points.
PM2
?
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH5 | NM_001369.3 | c.5272-24_5272-15del | splice_polypyrimidine_tract_variant, intron_variant | ENST00000265104.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH5 | ENST00000265104.5 | c.5272-24_5272-15del | splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_001369.3 | P4 | |||
DNAH5 | ENST00000681290.1 | c.5227-24_5227-15del | splice_polypyrimidine_tract_variant, intron_variant | A1 |
Frequencies
GnomAD3 genomes ? Cov.: 0
GnomAD3 genomes
?
Cov.:
0
GnomAD4 exome AF: 0.00000820 AC: 4AN: 488008Hom.: 0 AF XY: 0.0000152 AC XY: 4AN XY: 263784
GnomAD4 exome
AF:
AC:
4
AN:
488008
Hom.:
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AC XY:
4
AN XY:
263784
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GnomAD4 genome ? Cov.: 0
GnomAD4 genome
?
Cov.:
0
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at