rs573384750
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_001277115.2(DNAH11):c.10379C>A(p.Thr3460Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000658 in 1,611,778 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar 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 -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAH11 | NM_001277115.2 | c.10379C>A | p.Thr3460Lys | missense_variant | 64/82 | ENST00000409508.8 | NP_001264044.1 | |
LOC124901599 | XR_007060248.1 | n.-43G>T | upstream_gene_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH11 | ENST00000409508.8 | c.10379C>A | p.Thr3460Lys | missense_variant | 64/82 | 5 | NM_001277115.2 | ENSP00000475939.1 |
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152122Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000183 AC: 45AN: 245676Hom.: 0 AF XY: 0.000173 AC XY: 23AN XY: 133100
GnomAD4 exome AF: 0.0000651 AC: 95AN: 1459538Hom.: 0 Cov.: 30 AF XY: 0.0000634 AC XY: 46AN XY: 725700
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152240Hom.: 0 Cov.: 32 AF XY: 0.0000940 AC XY: 7AN XY: 74432
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Aug 15, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at