rs202034810
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4BP6
The NM_001277115.2(DNAH11):c.5138C>T(p.Thr1713Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000693 in 1,601,942 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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. T1713T) 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 Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH11 | NM_001277115.2 | c.5138C>T | p.Thr1713Met | missense_variant | 30/82 | ENST00000409508.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH11 | ENST00000409508.8 | c.5138C>T | p.Thr1713Met | missense_variant | 30/82 | 5 | NM_001277115.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000355 AC: 54AN: 151998Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000868 AC: 20AN: 230482Hom.: 0 AF XY: 0.0000563 AC XY: 7AN XY: 124386
GnomAD4 exome AF: 0.0000393 AC: 57AN: 1449826Hom.: 0 Cov.: 31 AF XY: 0.0000375 AC XY: 27AN XY: 719868
GnomAD4 genome ? AF: 0.000355 AC: 54AN: 152116Hom.: 0 Cov.: 31 AF XY: 0.000377 AC XY: 28AN XY: 74356
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Uncertain:1Benign:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 17, 2018 | The p.T1713M variant (also known as c.5138C>T), located in coding exon 30 of the DNAH11 gene, results from a C to T substitution at nucleotide position 5138. The threonine at codon 1713 is replaced by methionine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. - |
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 29, 2024 | - - |
DNAH11-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Jul 30, 2021 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at