rs747193364
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP6
The NM_001277115.2(DNAH11):āc.355C>Gā(p.Pro119Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000234 in 1,577,926 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001277115.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH11 | NM_001277115.2 | c.355C>G | p.Pro119Ala | missense_variant | 2/82 | ENST00000409508.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH11 | ENST00000409508.8 | c.355C>G | p.Pro119Ala | missense_variant | 2/82 | 5 | NM_001277115.2 | P1 | |
DNAH11 | ENST00000607050.1 | n.345C>G | non_coding_transcript_exon_variant | 2/2 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 151998Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000196 AC: 4AN: 203778Hom.: 0 AF XY: 0.0000274 AC XY: 3AN XY: 109296
GnomAD4 exome AF: 0.0000238 AC: 34AN: 1425928Hom.: 0 Cov.: 30 AF XY: 0.0000156 AC XY: 11AN XY: 706430
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 151998Hom.: 0 Cov.: 31 AF XY: 0.0000404 AC XY: 3AN XY: 74240
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Uncertain:1Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Nov 27, 2023 | - - |
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 28, 2017 | The p.P119A variant (also known as c.355C>G), located in coding exon 2 of the DNAH11 gene, results from a C to G substitution at nucleotide position 355. The proline at codon 119 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at