rs762297426
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 2P and 12B. PM2BP4_StrongBP6_Very_Strong
The NM_001277115.2(DNAH11):āc.11107G>Cā(p.Glu3703Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000187 in 1,613,628 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E3703K) has been classified as Uncertain significance.
Frequency
Consequence
NM_001277115.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH11 | NM_001277115.2 | c.11107G>C | p.Glu3703Gln | missense_variant | 68/82 | ENST00000409508.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH11 | ENST00000409508.8 | c.11107G>C | p.Glu3703Gln | missense_variant | 68/82 | 5 | NM_001277115.2 | P1 | |
DNAH11 | ENST00000421290.1 | n.290G>C | non_coding_transcript_exon_variant | 3/4 | 4 | ||||
DNAH11 | ENST00000607413.5 | n.370G>C | non_coding_transcript_exon_variant | 3/4 | 4 |
Frequencies
GnomAD3 genomes AF: 0.000210 AC: 32AN: 152074Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000289 AC: 72AN: 248922Hom.: 1 AF XY: 0.000259 AC XY: 35AN XY: 135068
GnomAD4 exome AF: 0.000184 AC: 269AN: 1461554Hom.: 1 Cov.: 29 AF XY: 0.000177 AC XY: 129AN XY: 727050
GnomAD4 genome AF: 0.000210 AC: 32AN: 152074Hom.: 0 Cov.: 33 AF XY: 0.000189 AC XY: 14AN XY: 74268
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Benign:2
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | May 09, 2022 | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 25, 2024 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Mar 01, 2023 | DNAH11: BP4 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at