rs1678690
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 2P and 9B. PM2BP4_ModerateBP6_ModerateBP7BS1
The NM_001206927.2(DNAH8):c.3294C>A(p.Ser1098=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000368 in 1,585,198 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Synonymous variant affecting the same amino acid position (i.e. S1098S) has been classified as Benign.
Frequency
Consequence
NM_001206927.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH8 | NM_001206927.2 | c.3294C>A | p.Ser1098= | synonymous_variant | 25/93 | ENST00000327475.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH8 | ENST00000327475.11 | c.3294C>A | p.Ser1098= | synonymous_variant | 25/93 | 5 | NM_001206927.2 | P2 | |
DNAH8 | ENST00000359357.7 | c.2643C>A | p.Ser881= | synonymous_variant | 23/91 | 2 | A2 | ||
DNAH8 | ENST00000449981.6 | c.3294C>A | p.Ser1098= | synonymous_variant | 24/82 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00186 AC: 282AN: 151918Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000572 AC: 142AN: 248150Hom.: 1 AF XY: 0.000395 AC XY: 53AN XY: 134090
GnomAD4 exome AF: 0.000210 AC: 301AN: 1433162Hom.: 1 Cov.: 29 AF XY: 0.000167 AC XY: 119AN XY: 714540
GnomAD4 genome ? AF: 0.00186 AC: 283AN: 152036Hom.: 0 Cov.: 32 AF XY: 0.00163 AC XY: 121AN XY: 74298
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Nov 29, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at