rs183682756
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS1
The NM_001277115.2(DNAH11):c.8072A>G(p.Gln2691Arg) variant causes a missense change. The variant allele was found at a frequency of 0.000245 in 1,613,982 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Q2691K) has been classified as Uncertain significance.
Frequency
Consequence
NM_001277115.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH11 | NM_001277115.2 | c.8072A>G | p.Gln2691Arg | missense_variant | 49/82 | ENST00000409508.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH11 | ENST00000409508.8 | c.8072A>G | p.Gln2691Arg | missense_variant | 49/82 | 5 | NM_001277115.2 | P1 | |
DNAH11 | ENST00000605912.1 | c.474+2411A>G | intron_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.000230 AC: 35AN: 152220Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000233 AC: 58AN: 249084Hom.: 0 AF XY: 0.000244 AC XY: 33AN XY: 135126
GnomAD4 exome AF: 0.000247 AC: 361AN: 1461644Hom.: 2 Cov.: 31 AF XY: 0.000235 AC XY: 171AN XY: 727112
GnomAD4 genome ? AF: 0.000230 AC: 35AN: 152338Hom.: 0 Cov.: 33 AF XY: 0.000215 AC XY: 16AN XY: 74496
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Benign:2
Benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 10, 2019 | This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 30, 2024 | - - |
Primary ciliary dyskinesia 7 Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Fulgent Genetics, Fulgent Genetics | May 20, 2022 | - - |
DNAH11-related condition Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Dec 01, 2023 | The DNAH11 c.8072A>G variant is predicted to result in the amino acid substitution p.Gln2691Arg. This variant has been reported in the heterozygous state or along with a second DNAH11 variant in individuals with primary ciliary dyskinesia or chronic respiratory disease (Sherman et al. 2020. PubMed ID: 32662935; Alsamri et al. 2020. PubMed ID: 32662942; Alsamri et al. 2021. PubMed ID: 34768622; Shoemark et al. 2022. PubMed ID: 35728977). This variant is reported in 0.057% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. - |
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Feb 01, 2024 | DNAH11: PM2:Supporting, BP4 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at