rs117064287
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The NM_001277115.2(DNAH11):āc.640A>Gā(p.Ile214Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00629 in 1,595,426 control chromosomes in the GnomAD database, including 59 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/18 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 Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH11 | NM_001277115.2 | c.640A>G | p.Ile214Val | missense_variant | 3/82 | ENST00000409508.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH11 | ENST00000409508.8 | c.640A>G | p.Ile214Val | missense_variant | 3/82 | 5 | NM_001277115.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00562 AC: 856AN: 152206Hom.: 5 Cov.: 33
GnomAD3 exomes AF: 0.00546 AC: 1199AN: 219534Hom.: 8 AF XY: 0.00532 AC XY: 627AN XY: 117788
GnomAD4 exome AF: 0.00636 AC: 9180AN: 1443102Hom.: 54 Cov.: 31 AF XY: 0.00633 AC XY: 4531AN XY: 715680
GnomAD4 genome AF: 0.00563 AC: 857AN: 152324Hom.: 5 Cov.: 33 AF XY: 0.00577 AC XY: 430AN XY: 74500
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Uncertain:1Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Uncertain significance, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jun 14, 2016 | - - |
not specified Benign:2
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Apr 26, 2016 | - - |
Benign, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Apr 03, 2014 | - - |
not provided Benign:2
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Feb 13, 2022 | - - |
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Nov 01, 2023 | DNAH11: BP4, BS2 - |
Primary ciliary dyskinesia 7 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Genetics and Molecular Pathology, SA Pathology | Dec 19, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at