chr3-52393348-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_015512.5(DNAH1):c.10489C>G(p.Arg3497Gly) 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 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. R3497C) 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 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH1 | NM_015512.5 | c.10489C>G | p.Arg3497Gly | missense_variant | 66/78 | ENST00000420323.7 | |
DNAH1 | XM_017006129.2 | c.10558C>G | p.Arg3520Gly | missense_variant | 68/80 | ||
DNAH1 | XM_017006130.2 | c.10489C>G | p.Arg3497Gly | missense_variant | 67/79 | ||
DNAH1 | XM_017006131.2 | c.10432C>G | p.Arg3478Gly | missense_variant | 67/79 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH1 | ENST00000420323.7 | c.10489C>G | p.Arg3497Gly | missense_variant | 66/78 | 1 | NM_015512.5 | P1 | |
DNAH1 | ENST00000486752.5 | n.10946C>G | non_coding_transcript_exon_variant | 65/77 | 2 | ||||
DNAH1 | ENST00000488988.5 | n.2275C>G | non_coding_transcript_exon_variant | 13/25 | 2 | ||||
DNAH1 | ENST00000490713.5 | c.1189C>G | p.Arg397Gly | missense_variant, NMD_transcript_variant | 9/20 | 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