rs781267941
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 6P and 2B. PM2PP3_StrongBP6_Moderate
The NM_001369.3(DNAH5):c.13502G>A(p.Arg4501Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000223 in 1,613,842 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. R4501R) has been classified as Likely benign.
Frequency
Consequence
NM_001369.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH5 | NM_001369.3 | c.13502G>A | p.Arg4501Gln | missense_variant | 78/79 | ENST00000265104.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH5 | ENST00000265104.5 | c.13502G>A | p.Arg4501Gln | missense_variant | 78/79 | 1 | NM_001369.3 | P4 | |
DNAH5 | ENST00000681290.1 | c.13457G>A | p.Arg4486Gln | missense_variant | 78/79 | A1 | |||
DNAH5 | ENST00000683611.1 | n.835G>A | non_coding_transcript_exon_variant | 4/5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000329 AC: 5AN: 151986Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 251308Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135814
GnomAD4 exome AF: 0.0000212 AC: 31AN: 1461856Hom.: 0 Cov.: 32 AF XY: 0.0000234 AC XY: 17AN XY: 727234
GnomAD4 genome ? AF: 0.0000329 AC: 5AN: 151986Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74216
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Uncertain:1Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Uncertain significance, no assertion criteria provided | clinical testing | Natera, Inc. | Oct 28, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at