16-20936689-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001347886.2(DNAH3):āc.11681G>Cā(p.Gly3894Ala) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000688 in 1,454,088 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_001347886.2 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 |
---|---|---|---|---|---|---|---|---|
DNAH3 | NM_001347886.2 | c.11681G>C | p.Gly3894Ala | missense_variant | Exon 60 of 62 | ENST00000698260.1 | NP_001334815.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH3 | ENST00000698260.1 | c.11681G>C | p.Gly3894Ala | missense_variant | Exon 60 of 62 | NM_001347886.2 | ENSP00000513632.1 | |||
DNAH3 | ENST00000261383.3 | c.11819G>C | p.Gly3940Ala | missense_variant | Exon 60 of 62 | 1 | ENSP00000261383.3 | |||
DNAH3 | ENST00000685858.1 | c.11861G>C | p.Gly3954Ala | missense_variant | Exon 60 of 62 | ENSP00000508756.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000420 AC: 1AN: 238062Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 128834
GnomAD4 exome AF: 6.88e-7 AC: 1AN: 1454088Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 722670
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at