chr6-38790332-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001206927.2(DNAH8):c.2708C>T(p.Ser903Leu) variant causes a missense change. The variant allele was found at a frequency of 0.000115 in 1,607,660 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S903P) has been classified as Uncertain significance.
Frequency
Consequence
NM_001206927.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAH8 | NM_001206927.2 | c.2708C>T | p.Ser903Leu | missense_variant | Exon 20 of 93 | ENST00000327475.11 | NP_001193856.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH8 | ENST00000327475.11 | c.2708C>T | p.Ser903Leu | missense_variant | Exon 20 of 93 | 5 | NM_001206927.2 | ENSP00000333363.7 | ||
DNAH8 | ENST00000359357.7 | c.2057C>T | p.Ser686Leu | missense_variant | Exon 18 of 91 | 2 | ENSP00000352312.3 | |||
DNAH8 | ENST00000449981.6 | c.2708C>T | p.Ser903Leu | missense_variant | Exon 19 of 82 | 5 | ENSP00000415331.2 |
Frequencies
GnomAD3 genomes AF: 0.0000790 AC: 12AN: 151972Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000266 AC: 65AN: 244510Hom.: 1 AF XY: 0.000303 AC XY: 40AN XY: 132100
GnomAD4 exome AF: 0.000120 AC: 174AN: 1455570Hom.: 4 Cov.: 29 AF XY: 0.000164 AC XY: 119AN XY: 724064
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152090Hom.: 0 Cov.: 32 AF XY: 0.0000942 AC XY: 7AN XY: 74346
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at