5-13817625-C-T
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4BP6_Moderate
The NM_001369.3(DNAH5):c.6911G>A(p.Arg2304Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000347 in 1,614,116 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 Likely benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R2304W) 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 -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH5 | NM_001369.3 | c.6911G>A | p.Arg2304Gln | missense_variant | 42/79 | ENST00000265104.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH5 | ENST00000265104.5 | c.6911G>A | p.Arg2304Gln | missense_variant | 42/79 | 1 | NM_001369.3 | P4 | |
DNAH5 | ENST00000681290.1 | c.6866G>A | p.Arg2289Gln | missense_variant | 42/79 | A1 | |||
DNAH5 | ENST00000683090.1 | n.1842G>A | non_coding_transcript_exon_variant | 7/7 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152168Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000131 AC: 33AN: 251456Hom.: 0 AF XY: 0.0000957 AC XY: 13AN XY: 135906
GnomAD4 exome AF: 0.0000356 AC: 52AN: 1461830Hom.: 0 Cov.: 31 AF XY: 0.0000344 AC XY: 25AN XY: 727210
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152286Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74454
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Uncertain:1Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 11, 2024 | - - |
Uncertain significance, no assertion criteria provided | clinical testing | Natera, Inc. | Feb 21, 2020 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at