rs180859001
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001206927.2(DNAH8):c.9839A>C(p.Gln3280Pro) variant causes a missense change. The variant allele was found at a frequency of 0.00000125 in 1,603,054 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. Q3280L) has been classified as Uncertain significance.
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.9839A>C | p.Gln3280Pro | missense_variant | 66/93 | ENST00000327475.11 | |
DNAH8-AS1 | NR_038401.1 | n.783-3729T>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH8 | ENST00000327475.11 | c.9839A>C | p.Gln3280Pro | missense_variant | 66/93 | 5 | NM_001206927.2 | P2 | |
DNAH8 | ENST00000359357.7 | c.9188A>C | p.Gln3063Pro | missense_variant | 64/91 | 2 | A2 | ||
DNAH8 | ENST00000449981.6 | c.9839A>C | p.Gln3280Pro | missense_variant | 65/82 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152236Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250782Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135578
GnomAD4 exome AF: 6.89e-7 AC: 1AN: 1450700Hom.: 0 Cov.: 29 AF XY: 0.00000138 AC XY: 1AN XY: 722548
GnomAD4 genome ? AF: 0.00000656 AC: 1AN: 152354Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74512
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at