rs375805820
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_015512.5(DNAH1):āc.4477A>Cā(p.Ile1493Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000186 in 1,613,822 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. I1493V) 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 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH1 | NM_015512.5 | c.4477A>C | p.Ile1493Leu | missense_variant | 27/78 | ENST00000420323.7 | |
DNAH1 | XM_017006129.2 | c.4477A>C | p.Ile1493Leu | missense_variant | 28/80 | ||
DNAH1 | XM_017006130.2 | c.4477A>C | p.Ile1493Leu | missense_variant | 28/79 | ||
DNAH1 | XM_017006131.2 | c.4477A>C | p.Ile1493Leu | missense_variant | 28/79 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH1 | ENST00000420323.7 | c.4477A>C | p.Ile1493Leu | missense_variant | 27/78 | 1 | NM_015512.5 | P1 | |
DNAH1 | ENST00000486752.5 | n.4738A>C | non_coding_transcript_exon_variant | 27/77 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152244Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461578Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727064
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152244Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74378
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at