6-38722935-G-GGCAGAAGATGGTTTCTCTCCTTCC
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PM4
The NM_001206927.2(DNAH8):c.137_160dup(p.Gly46_Asp53dup) variant causes a inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000577 in 1,612,534 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. P42P) has been classified as Likely benign.
Frequency
Consequence
NM_001206927.2 inframe_insertion
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.137_160dup | p.Gly46_Asp53dup | inframe_insertion | 2/93 | ENST00000327475.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH8 | ENST00000327475.11 | c.137_160dup | p.Gly46_Asp53dup | inframe_insertion | 2/93 | 5 | NM_001206927.2 | P2 | |
DNAH8 | ENST00000373278.8 | c.137_160dup | p.Gly46_Asp53dup | inframe_insertion | 2/5 | 1 | |||
DNAH8 | ENST00000449981.6 | c.137_160dup | p.Gly46_Asp53dup | inframe_insertion | 1/82 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152156Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000247 AC: 6AN: 242566Hom.: 0 AF XY: 0.0000225 AC XY: 3AN XY: 133104
GnomAD4 exome AF: 0.0000616 AC: 90AN: 1460378Hom.: 0 Cov.: 32 AF XY: 0.0000592 AC XY: 43AN XY: 726482
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152156Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74318
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Aug 27, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at