rs727502969
Variant summary
Our verdict is Likely benign. The variant received -1 ACMG points: 0P and 1B. BP6
The NM_001277115.2(DNAH11):c.10441G>A(p.Glu3481Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0000161 in 1,613,424 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001277115.2 missense
Scores
Clinical Significance
Conservation
Publications
- primary ciliary dyskinesia 7Inheritance: AR Classification: DEFINITIVE, STRONG Submitted by: PanelApp Australia, Laboratory for Molecular Medicine, Labcorp Genetics (formerly Invitae), ClinGen
- primary ciliary dyskinesiaInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Our verdict: Likely_benign. The variant received -1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152114Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0000362 AC: 9AN: 248326 AF XY: 0.0000371 show subpopulations
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1461192Hom.: 0 Cov.: 34 AF XY: 0.0000179 AC XY: 13AN XY: 726820 show subpopulations
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152232Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74416 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The Glu3481Lys variant in DNAH11 has not been previously reported in individuals with lung disease or in large population studies. Computational analyses (bioch emical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do n ot provide strong support for or against an impact to the protein. In summary, a dditional studies are needed to fully assess the clinical significance of the Gl u3481Lys variant. -
Primary ciliary dyskinesia 7 Uncertain:1
The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.0000362). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline. -
Primary ciliary dyskinesia Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at