chr7-21543246-A-ATGGCAGCCCAGG
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PM4
The NM_001277115.2(DNAH11):c.11_22dupAGGTGGCAGCCC(p.Gln4_Ala7dup) variant causes a disruptive inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000653 in 1,532,290 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001277115.2 disruptive_inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152186Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000720 AC: 1AN: 138796Hom.: 0 AF XY: 0.0000134 AC XY: 1AN XY: 74792
GnomAD4 exome AF: 0.00000652 AC: 9AN: 1380104Hom.: 0 Cov.: 30 AF XY: 0.0000118 AC XY: 8AN XY: 678936
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152186Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74350
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Uncertain:1
The c.11_22dup12 variant (also known as p.Q4_A7dup), located in coding exon 1 of the DNAH11 gene, results from an in-frame duplication of 12 nucleotides between nucleotide positions 11 and 22. This results in the duplication of 4 extra amino acid residues (QVAA) between codons 4 and 7. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 4003 samples (8006 alleles) with coverage at this position. These amino acid positions are poorly conserved on limited sequence alignment. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at