rs375158290
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001206927.2(DNAH8):c.11729T>A(p.Phe3910Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.0000335 in 1,613,968 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. F3910S) has been classified as Uncertain significance.
Frequency
Consequence
NM_001206927.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH8 | NM_001206927.2 | c.11729T>A | p.Phe3910Tyr | missense_variant | 78/93 | ENST00000327475.11 | |
DNAH8-AS1 | NR_038401.1 | n.61-1747A>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH8 | ENST00000327475.11 | c.11729T>A | p.Phe3910Tyr | missense_variant | 78/93 | 5 | NM_001206927.2 | P2 | |
DNAH8-AS1 | ENST00000416948.1 | n.53-1747A>T | intron_variant, non_coding_transcript_variant | 2 | |||||
DNAH8 | ENST00000359357.7 | c.11078T>A | p.Phe3693Tyr | missense_variant | 76/91 | 2 | A2 | ||
DNAH8 | ENST00000449981.6 | c.11729T>A | p.Phe3910Tyr | missense_variant | 77/82 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152132Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000358 AC: 9AN: 251084Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135700
GnomAD4 exome AF: 0.0000342 AC: 50AN: 1461836Hom.: 0 Cov.: 33 AF XY: 0.0000234 AC XY: 17AN XY: 727220
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152132Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74300
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Feb 01, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at