rs866647249
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_015512.5(DNAH1):c.10688C>A(p.Pro3563Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P3563L) has been classified as Uncertain significance.
Frequency
Consequence
NM_015512.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH1 | NM_015512.5 | c.10688C>A | p.Pro3563Gln | missense_variant | 67/78 | ENST00000420323.7 | |
DNAH1 | XM_017006129.2 | c.10757C>A | p.Pro3586Gln | missense_variant | 69/80 | ||
DNAH1 | XM_017006130.2 | c.10688C>A | p.Pro3563Gln | missense_variant | 68/79 | ||
DNAH1 | XM_017006131.2 | c.10631C>A | p.Pro3544Gln | missense_variant | 68/79 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH1 | ENST00000420323.7 | c.10688C>A | p.Pro3563Gln | missense_variant | 67/78 | 1 | NM_015512.5 | P1 | |
DNAH1 | ENST00000486752.5 | n.11145C>A | non_coding_transcript_exon_variant | 66/77 | 2 | ||||
DNAH1 | ENST00000488988.5 | n.2474C>A | non_coding_transcript_exon_variant | 14/25 | 2 | ||||
DNAH1 | ENST00000490713.5 | c.1388C>A | p.Pro463Gln | missense_variant, NMD_transcript_variant | 10/20 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at