3-52396682-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_015512.5(DNAH1):c.11495G>T(p.Arg3832Leu) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic 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. R3832C) has been classified as Benign.
Frequency
Consequence
NM_015512.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH1 | NM_015512.5 | c.11495G>T | p.Arg3832Leu | missense_variant | 72/78 | ENST00000420323.7 | |
DNAH1 | XM_017006129.2 | c.11564G>T | p.Arg3855Leu | missense_variant | 74/80 | ||
DNAH1 | XM_017006130.2 | c.11495G>T | p.Arg3832Leu | missense_variant | 73/79 | ||
DNAH1 | XM_017006131.2 | c.11438G>T | p.Arg3813Leu | missense_variant | 73/79 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH1 | ENST00000420323.7 | c.11495G>T | p.Arg3832Leu | missense_variant | 72/78 | 1 | NM_015512.5 | P1 | |
DNAH1 | ENST00000486752.5 | n.11952G>T | non_coding_transcript_exon_variant | 71/77 | 2 | ||||
DNAH1 | ENST00000488988.5 | n.3281G>T | non_coding_transcript_exon_variant | 19/25 | 2 | ||||
DNAH1 | ENST00000490713.5 | c.2195G>T | p.Arg732Leu | missense_variant, NMD_transcript_variant | 15/20 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 34
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at