6-38923168-C-G
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_ModerateBP6BS1BS2
The NM_001206927.2(DNAH8):āc.10773C>Gā(p.Phe3591Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000448 in 1,613,450 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001206927.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAH8 | NM_001206927.2 | c.10773C>G | p.Phe3591Leu | missense_variant | Exon 72 of 93 | ENST00000327475.11 | NP_001193856.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH8 | ENST00000327475.11 | c.10773C>G | p.Phe3591Leu | missense_variant | Exon 72 of 93 | 5 | NM_001206927.2 | ENSP00000333363.7 |
Frequencies
GnomAD3 genomes AF: 0.000283 AC: 43AN: 152116Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000474 AC: 119AN: 250942Hom.: 2 AF XY: 0.000391 AC XY: 53AN XY: 135646
GnomAD4 exome AF: 0.000465 AC: 680AN: 1461334Hom.: 3 Cov.: 30 AF XY: 0.000421 AC XY: 306AN XY: 726962
GnomAD4 genome AF: 0.000283 AC: 43AN: 152116Hom.: 0 Cov.: 32 AF XY: 0.000229 AC XY: 17AN XY: 74308
ClinVar
Submissions by phenotype
not provided Uncertain:1
Reported with a second DNAH8 variant on the opposite allele (in trans) in a patient with dextrocardia, atrioventricular septal defect, asplenia, and failure to thrive in published literature (Reuter et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32037394) -
Primary ciliary dyskinesia Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at