rs28375417
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP2
The NM_001370.2(DNAH6):c.5081G>A(p.Gly1694Glu) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.000000738 in 1,354,644 control chromosomes in the GnomAD database, with no homozygous occurrence. 1/1 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G1694A) has been classified as Benign.
Frequency
Consequence
NM_001370.2 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH6 | NM_001370.2 | c.5081G>A | p.Gly1694Glu | missense_variant, splice_region_variant | 34/77 | ENST00000389394.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH6 | ENST00000389394.8 | c.5081G>A | p.Gly1694Glu | missense_variant, splice_region_variant | 34/77 | 5 | NM_001370.2 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 7.38e-7 AC: 1AN: 1354644Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 663826
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at