rs534783808
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 2P and 8B. PM2BP4_ModerateBP6_ModerateBS1
The NM_001206927.2(DNAH8):c.5408T>C(p.Val1803Ala) variant causes a missense change. The variant allele was found at a frequency of 0.0000732 in 1,612,378 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. V1803V) has been classified as Likely benign.
Frequency
Consequence
NM_001206927.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH8 | NM_001206927.2 | c.5408T>C | p.Val1803Ala | missense_variant | 39/93 | ENST00000327475.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH8 | ENST00000327475.11 | c.5408T>C | p.Val1803Ala | missense_variant | 39/93 | 5 | NM_001206927.2 | P2 | |
DNAH8 | ENST00000359357.7 | c.4757T>C | p.Val1586Ala | missense_variant | 37/91 | 2 | A2 | ||
DNAH8 | ENST00000449981.6 | c.5408T>C | p.Val1803Ala | missense_variant | 38/82 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.000138 AC: 21AN: 152236Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000272 AC: 68AN: 249654Hom.: 0 AF XY: 0.000148 AC XY: 20AN XY: 134856
GnomAD4 exome AF: 0.0000664 AC: 97AN: 1460024Hom.: 0 Cov.: 29 AF XY: 0.0000413 AC XY: 30AN XY: 726292
GnomAD4 genome ? AF: 0.000138 AC: 21AN: 152354Hom.: 0 Cov.: 32 AF XY: 0.000174 AC XY: 13AN XY: 74520
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 05, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at