chr17-11854239-C-G
Variant summary
Our verdict is Benign. The variant received -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_001372.4(DNAH9):c.9744C>G(p.Pro3248Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.414 in 1,613,906 control chromosomes in the GnomAD database, including 141,008 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Synonymous variant affecting the same amino acid position (i.e. P3248P) has been classified as Benign.
Frequency
Consequence
NM_001372.4 synonymous
Scores
Clinical Significance
Conservation
Publications
- ciliary dyskinesia, primary, 40Inheritance: AR Classification: DEFINITIVE, STRONG, MODERATE Submitted by: G2P, Labcorp Genetics (formerly Invitae), Ambry Genetics, PanelApp Australia
- primary ciliary dyskinesiaInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
- situs inversusInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
- schizophreniaInheritance: AD Classification: LIMITED Submitted by: Ambry Genetics
Genome browser will be placed here
ACMG classification
Our verdict: Benign. The variant received -21 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH9 | ENST00000262442.9 | c.9744C>G | p.Pro3248Pro | synonymous_variant | Exon 50 of 69 | 1 | NM_001372.4 | ENSP00000262442.3 | ||
DNAH9 | ENST00000454412.6 | c.9744C>G | p.Pro3248Pro | synonymous_variant | Exon 50 of 68 | 5 | ENSP00000414874.2 | |||
DNAH9 | ENST00000579703.1 | c.186C>G | p.Pro62Pro | synonymous_variant | Exon 1 of 4 | 3 | ENSP00000463622.2 | |||
DNAH9 | ENST00000578834.1 | n.291C>G | non_coding_transcript_exon_variant | Exon 2 of 3 | 4 |
Frequencies
GnomAD3 genomes AF: 0.401 AC: 60887AN: 151906Hom.: 12601 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.432 AC: 108654AN: 251438 AF XY: 0.424 show subpopulations
GnomAD4 exome AF: 0.416 AC: 607421AN: 1461882Hom.: 128397 Cov.: 71 AF XY: 0.413 AC XY: 300160AN XY: 727246 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.401 AC: 60921AN: 152024Hom.: 12611 Cov.: 32 AF XY: 0.400 AC XY: 29734AN XY: 74338 show subpopulations
Age Distribution
ClinVar
Submissions by phenotype
not provided Benign:3
- -
- -
- -
not specified Benign:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency -
Ciliary dyskinesia, primary, 40 Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at