rs146505940
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001206927.2(DNAH8):c.12100C>A(p.Leu4034Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000545 in 1,614,138 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001206927.2 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAH8 | NM_001206927.2 | c.12100C>A | p.Leu4034Ile | missense_variant | Exon 80 of 93 | ENST00000327475.11 | NP_001193856.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH8 | ENST00000327475.11 | c.12100C>A | p.Leu4034Ile | missense_variant | Exon 80 of 93 | 5 | NM_001206927.2 | ENSP00000333363.7 | ||
DNAH8 | ENST00000359357.7 | c.11449C>A | p.Leu3817Ile | missense_variant | Exon 78 of 91 | 2 | ENSP00000352312.3 | |||
DNAH8 | ENST00000449981.6 | c.12100C>A | p.Leu4034Ile | missense_variant | Exon 79 of 82 | 5 | ENSP00000415331.2 | |||
DNAH8-AS1 | ENST00000416948.1 | n.52+7489G>T | intron_variant | Intron 1 of 3 | 2 |
Frequencies
GnomAD3 genomes AF: 0.000131 AC: 20AN: 152178Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000103 AC: 26AN: 251434Hom.: 0 AF XY: 0.0000662 AC XY: 9AN XY: 135884
GnomAD4 exome AF: 0.0000465 AC: 68AN: 1461842Hom.: 0 Cov.: 31 AF XY: 0.0000399 AC XY: 29AN XY: 727220
GnomAD4 genome AF: 0.000131 AC: 20AN: 152296Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74460
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at