rs45600141
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 2P and 11B. PM2BP4_StrongBP6_ModerateBP7BS1
The NM_001206927.2(DNAH8):āc.13722C>Gā(p.Leu4574=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000773 in 1,608,372 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 Likely benign (ā ). Synonymous variant affecting the same amino acid position (i.e. L4574L) 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.13722C>G | p.Leu4574= | synonymous_variant | 92/93 | ENST00000327475.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH8 | ENST00000327475.11 | c.13722C>G | p.Leu4574= | synonymous_variant | 92/93 | 5 | NM_001206927.2 | P2 | |
DNAH8 | ENST00000359357.7 | c.13071C>G | p.Leu4357= | synonymous_variant | 90/91 | 2 | A2 |
Frequencies
GnomAD3 genomes AF: 0.000493 AC: 75AN: 152152Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000716 AC: 176AN: 245956Hom.: 0 AF XY: 0.000744 AC XY: 99AN XY: 133124
GnomAD4 exome AF: 0.000802 AC: 1168AN: 1456102Hom.: 1 Cov.: 31 AF XY: 0.000811 AC XY: 587AN XY: 724186
GnomAD4 genome AF: 0.000493 AC: 75AN: 152270Hom.: 0 Cov.: 33 AF XY: 0.000510 AC XY: 38AN XY: 74448
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 25, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at