rs938155757
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001372106.1(DNAH10):c.11321C>A(p.Ala3774Asp) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,180 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. A3774V) has been classified as Uncertain significance.
Frequency
Consequence
NM_001372106.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAH10 | NM_001372106.1 | c.11321C>A | p.Ala3774Asp | missense_variant | Exon 65 of 79 | ENST00000673944.1 | NP_001359035.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH10 | ENST00000673944.1 | c.11321C>A | p.Ala3774Asp | missense_variant | Exon 65 of 79 | NM_001372106.1 | ENSP00000501095.1 | |||
DNAH10 | ENST00000409039.8 | c.11150C>A | p.Ala3717Asp | missense_variant | Exon 64 of 78 | 5 | ENSP00000386770.4 | |||
DNAH10 | ENST00000638045.1 | c.10967C>A | p.Ala3656Asp | missense_variant | Exon 64 of 78 | 5 | ENSP00000489675.1 | |||
CCDC92 | ENST00000542348.5 | n.450G>T | non_coding_transcript_exon_variant | Exon 3 of 3 | 4 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152180Hom.: 0 Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152180Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74346
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at