7-21543583-C-A
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP6
The NM_001277115.2(DNAH11):c.338C>A(p.Ala113Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000677 in 1,594,620 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Synonymous variant affecting the same amino acid position (i.e. A113A) has been classified as Likely benign.
Frequency
Consequence
NM_001277115.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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.338C>A | p.Ala113Glu | missense_variant | 1/82 | ENST00000409508.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH11 | ENST00000409508.8 | c.338C>A | p.Ala113Glu | missense_variant | 1/82 | 5 | NM_001277115.2 | P1 | |
DNAH11 | ENST00000607050.1 | n.138C>A | non_coding_transcript_exon_variant | 1/2 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000920 AC: 14AN: 152228Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000994 AC: 21AN: 211210Hom.: 0 AF XY: 0.0000959 AC XY: 11AN XY: 114652
GnomAD4 exome AF: 0.0000652 AC: 94AN: 1442392Hom.: 0 Cov.: 35 AF XY: 0.0000741 AC XY: 53AN XY: 715614
GnomAD4 genome AF: 0.0000920 AC: 14AN: 152228Hom.: 0 Cov.: 33 AF XY: 0.000108 AC XY: 8AN XY: 74368
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia 7 Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Fulgent Genetics, Fulgent Genetics | Aug 18, 2021 | - - |
Primary ciliary dyskinesia Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 19, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at