rs369714206
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 3P and 1B. PM2PP3BP6
The NM_001369.3(DNAH5):āc.13174T>Cā(p.Phe4392Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000452 in 1,614,148 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 Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001369.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAH5 | NM_001369.3 | c.13174T>C | p.Phe4392Leu | missense_variant | 76/79 | ENST00000265104.5 | NP_001360.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH5 | ENST00000265104.5 | c.13174T>C | p.Phe4392Leu | missense_variant | 76/79 | 1 | NM_001369.3 | ENSP00000265104.4 | ||
DNAH5 | ENST00000681290.1 | c.13129T>C | p.Phe4377Leu | missense_variant | 76/79 | ENSP00000505288.1 | ||||
DNAH5 | ENST00000683611.1 | n.507T>C | non_coding_transcript_exon_variant | 2/5 |
Frequencies
GnomAD3 genomes AF: 0.000223 AC: 34AN: 152160Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000517 AC: 13AN: 251348Hom.: 0 AF XY: 0.0000294 AC XY: 4AN XY: 135848
GnomAD4 exome AF: 0.0000260 AC: 38AN: 1461870Hom.: 0 Cov.: 31 AF XY: 0.0000206 AC XY: 15AN XY: 727240
GnomAD4 genome AF: 0.000230 AC: 35AN: 152278Hom.: 0 Cov.: 32 AF XY: 0.000201 AC XY: 15AN XY: 74458
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Uncertain:2Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jan 15, 2024 | - - |
Uncertain significance, no assertion criteria provided | clinical testing | Natera, Inc. | Oct 28, 2019 | - - |
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 27, 2024 | The c.13174T>C (p.F4392L) alteration is located in exon 76 (coding exon 76) of the DNAH5 gene. This alteration results from a T to C substitution at nucleotide position 13174, causing the phenylalanine (F) at amino acid position 4392 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
not provided Benign:1
Likely benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at