7-21789325-A-G
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP6
The NM_001277115.2(DNAH11):āc.10009A>Gā(p.Ile3337Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000494 in 1,417,256 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/18 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 -3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.0000332 AC: 6AN: 180692Hom.: 0 AF XY: 0.0000314 AC XY: 3AN XY: 95616
GnomAD4 exome AF: 0.00000494 AC: 7AN: 1417256Hom.: 0 Cov.: 30 AF XY: 0.00000285 AC XY: 2AN XY: 700606
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia 7 Uncertain:1
- -
Primary ciliary dyskinesia Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at