rs116401640
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001206927.2(DNAH8):āc.8338A>Gā(p.Ile2780Val) variant causes a missense change. The variant allele was found at a frequency of 0.000687 in 1,614,066 control chromosomes in the GnomAD database, including 8 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. I2780T) has been classified as Likely benign.
Frequency
Consequence
NM_001206927.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH8 | NM_001206927.2 | c.8338A>G | p.Ile2780Val | missense_variant | 57/93 | ENST00000327475.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH8 | ENST00000327475.11 | c.8338A>G | p.Ile2780Val | missense_variant | 57/93 | 5 | NM_001206927.2 | P2 | |
DNAH8 | ENST00000359357.7 | c.7687A>G | p.Ile2563Val | missense_variant | 55/91 | 2 | A2 | ||
DNAH8 | ENST00000449981.6 | c.8338A>G | p.Ile2780Val | missense_variant | 56/82 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00388 AC: 591AN: 152188Hom.: 5 Cov.: 32
GnomAD3 exomes AF: 0.000912 AC: 229AN: 251152Hom.: 3 AF XY: 0.000678 AC XY: 92AN XY: 135724
GnomAD4 exome AF: 0.000351 AC: 513AN: 1461760Hom.: 3 Cov.: 31 AF XY: 0.000311 AC XY: 226AN XY: 727188
GnomAD4 genome ? AF: 0.00391 AC: 596AN: 152306Hom.: 5 Cov.: 32 AF XY: 0.00395 AC XY: 294AN XY: 74472
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 25, 2024 | - - |
DNAH8-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Dec 05, 2019 | 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