chr6-38973702-A-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001206927.2(DNAH8):c.12567A>C(p.Glu4189Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00053 in 1,607,608 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001206927.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAH8 | NM_001206927.2 | c.12567A>C | p.Glu4189Asp | missense_variant | Exon 84 of 93 | ENST00000327475.11 | NP_001193856.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH8 | ENST00000327475.11 | c.12567A>C | p.Glu4189Asp | missense_variant | Exon 84 of 93 | 5 | NM_001206927.2 | ENSP00000333363.7 | ||
DNAH8 | ENST00000359357.7 | c.11916A>C | p.Glu3972Asp | missense_variant | Exon 82 of 91 | 2 | ENSP00000352312.3 |
Frequencies
GnomAD3 genomes AF: 0.00296 AC: 451AN: 152208Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.000829 AC: 202AN: 243680Hom.: 3 AF XY: 0.000523 AC XY: 69AN XY: 131834
GnomAD4 exome AF: 0.000276 AC: 401AN: 1455282Hom.: 1 Cov.: 30 AF XY: 0.000218 AC XY: 158AN XY: 723772
GnomAD4 genome AF: 0.00296 AC: 451AN: 152326Hom.: 2 Cov.: 32 AF XY: 0.00269 AC XY: 200AN XY: 74484
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Benign:1
- -
DNAH8-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at