rs143487714
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 2P and 11B. PM2BP4_StrongBP6_ModerateBP7BS1
The NM_001206927.2(DNAH8):c.13896G>A(p.Gly4632=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000427 in 1,614,080 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 Benign (★). Synonymous variant affecting the same amino acid position (i.e. G4632G) has been classified as Likely benign.
Frequency
Consequence
NM_001206927.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH8 | NM_001206927.2 | c.13896G>A | p.Gly4632= | synonymous_variant | 93/93 | ENST00000327475.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH8 | ENST00000327475.11 | c.13896G>A | p.Gly4632= | synonymous_variant | 93/93 | 5 | NM_001206927.2 | P2 | |
DNAH8 | ENST00000359357.7 | c.13245G>A | p.Gly4415= | synonymous_variant | 91/91 | 2 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000723 AC: 11AN: 152116Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000179 AC: 45AN: 250918Hom.: 0 AF XY: 0.000162 AC XY: 22AN XY: 135600
GnomAD4 exome AF: 0.0000397 AC: 58AN: 1461846Hom.: 0 Cov.: 31 AF XY: 0.0000289 AC XY: 21AN XY: 727230
GnomAD4 genome ? AF: 0.0000723 AC: 11AN: 152234Hom.: 0 Cov.: 32 AF XY: 0.000134 AC XY: 10AN XY: 74444
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jul 07, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at