rs878854450
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP6
The NM_001277115.2(DNAH11):āc.998A>Gā(p.Gln333Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000567 in 1,588,666 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/19 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. Q333H) has been classified as Likely benign.
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
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH11 | NM_001277115.2 | c.998A>G | p.Gln333Arg | missense_variant | 6/82 | ENST00000409508.8 | |
LOC105375183 | XR_007060247.1 | n.283-3961T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH11 | ENST00000409508.8 | c.998A>G | p.Gln333Arg | missense_variant | 6/82 | 5 | NM_001277115.2 | P1 | |
DNAH11 | ENST00000496218.1 | n.80+3031A>G | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000461 AC: 7AN: 151834Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000853 AC: 2AN: 234502Hom.: 0 AF XY: 0.0000157 AC XY: 2AN XY: 127066
GnomAD4 exome AF: 0.00000139 AC: 2AN: 1436832Hom.: 0 Cov.: 32 AF XY: 0.00000140 AC XY: 1AN XY: 712630
GnomAD4 genome AF: 0.0000461 AC: 7AN: 151834Hom.: 0 Cov.: 32 AF XY: 0.0000540 AC XY: 4AN XY: 74138
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 22, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at