rs35337694
- chr5-13841918-CAAAAAAAAAAA-C
- chr5-13841918-CAAAAAAAAAAA-CA
- chr5-13841918-CAAAAAAAAAAA-CAA
- chr5-13841918-CAAAAAAAAAAA-CAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAAAAACAATTAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAAAATAAATATAAAAAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAAAATAATTTAAAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAAATATAAAAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAAATATAAAAAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAAATATATAAAAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAAATTTTAAAAAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAATAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAATAAATATATAAAAAAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAATATAAAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAGCAATAGTAAAAAAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAATAAAAACAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAATAATTTAAAAAACAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAACAAAAAACAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAACAATAAATTTAGAAAACAAAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAACCAAAAACAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAACTATATTCAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAACAAAAAACAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAACTATTTTAATATAAAAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAACTTTTTTTAAAAAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAATAAAAACAAAAAAAAAAAA
- chr5-13841918-CAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAACTAAAAAAAAAAAAAAAAAAAA
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001369.3(DNAH5):c.5272-25_5272-15delTTTTTTTTTTT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 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
Consequence
NM_001369.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH5 | ENST00000265104.5 | c.5272-25_5272-15delTTTTTTTTTTT | intron_variant | Intron 32 of 78 | 1 | NM_001369.3 | ENSP00000265104.4 | |||
DNAH5 | ENST00000681290.1 | c.5227-25_5227-15delTTTTTTTTTTT | intron_variant | Intron 32 of 78 | ENSP00000505288.1 |
Frequencies
GnomAD3 genomes Cov.: 0
GnomAD4 exome AF: 0.00000205 AC: 1AN: 488008Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 263784
GnomAD4 genome Cov.: 0
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.