rs11078022
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001372.4(DNAH9):c.429C>A(p.Pro143=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P143P) has been classified as Benign.
Frequency
Consequence
NM_001372.4 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH9 | NM_001372.4 | c.429C>A | p.Pro143= | synonymous_variant | 2/69 | ENST00000262442.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH9 | ENST00000262442.9 | c.429C>A | p.Pro143= | synonymous_variant | 2/69 | 1 | NM_001372.4 | P1 | |
DNAH9 | ENST00000579406.1 | n.456C>A | non_coding_transcript_exon_variant | 2/8 | 1 | ||||
DNAH9 | ENST00000454412.6 | c.429C>A | p.Pro143= | synonymous_variant | 2/68 | 5 | |||
DNAH9 | ENST00000579828.5 | c.429C>A | p.Pro143= | synonymous_variant | 2/4 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1444346Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 715116
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at