rs144949095
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP6
The NM_001369.3(DNAH5):c.13073G>A(p.Arg4358Gln) variant causes a missense change. The variant allele was found at a frequency of 0.00015 in 1,614,108 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R4358W) has been classified as Likely benign.
Frequency
Consequence
NM_001369.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH5 | NM_001369.3 | c.13073G>A | p.Arg4358Gln | missense_variant | 75/79 | ENST00000265104.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH5 | ENST00000265104.5 | c.13073G>A | p.Arg4358Gln | missense_variant | 75/79 | 1 | NM_001369.3 | P4 | |
DNAH5 | ENST00000681290.1 | c.13028G>A | p.Arg4343Gln | missense_variant | 75/79 | A1 | |||
DNAH5 | ENST00000683611.1 | n.406G>A | non_coding_transcript_exon_variant | 1/5 |
Frequencies
GnomAD3 genomes ? AF: 0.000335 AC: 51AN: 152138Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000418 AC: 105AN: 251210Hom.: 0 AF XY: 0.000376 AC XY: 51AN XY: 135774
GnomAD4 exome AF: 0.000131 AC: 191AN: 1461852Hom.: 1 Cov.: 32 AF XY: 0.000116 AC XY: 84AN XY: 727226
GnomAD4 genome ? AF: 0.000335 AC: 51AN: 152256Hom.: 0 Cov.: 33 AF XY: 0.000255 AC XY: 19AN XY: 74450
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Jun 01, 2022 | DNAH5: PM2, BP4 - |
Primary ciliary dyskinesia 3 Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Apr 27, 2017 | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. - |
Primary ciliary dyskinesia Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at