6-39026579-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001206927.2(DNAH8):c.13748G>A(p.Arg4583His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000657 in 1,612,966 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R4583C) has been classified as Likely benign.
Frequency
Consequence
NM_001206927.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH8 | NM_001206927.2 | c.13748G>A | p.Arg4583His | missense_variant | 92/93 | ENST00000327475.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH8 | ENST00000327475.11 | c.13748G>A | p.Arg4583His | missense_variant | 92/93 | 5 | NM_001206927.2 | P2 | |
DNAH8 | ENST00000359357.7 | c.13097G>A | p.Arg4366His | missense_variant | 90/91 | 2 | A2 |
Frequencies
GnomAD3 genomes AF: 0.000125 AC: 19AN: 152054Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000132 AC: 33AN: 249930Hom.: 0 AF XY: 0.000155 AC XY: 21AN XY: 135092
GnomAD4 exome AF: 0.0000596 AC: 87AN: 1460912Hom.: 0 Cov.: 31 AF XY: 0.0000716 AC XY: 52AN XY: 726656
GnomAD4 genome AF: 0.000125 AC: 19AN: 152054Hom.: 0 Cov.: 33 AF XY: 0.000256 AC XY: 19AN XY: 74276
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at