chr17-78423949-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4BS1_Supporting
The NM_173628.4(DNAH17):c.13346C>A(p.Ala4449Glu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000195 in 1,613,858 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A4449G) has been classified as Uncertain significance.
Frequency
Consequence
NM_173628.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH17 | NM_173628.4 | c.13346C>A | p.Ala4449Glu | missense_variant | 81/81 | ENST00000389840.7 | |
PGS1 | NM_024419.5 | c.*11-112G>T | intron_variant | ENST00000262764.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH17 | ENST00000389840.7 | c.13346C>A | p.Ala4449Glu | missense_variant | 81/81 | 5 | NM_173628.4 | P1 | |
PGS1 | ENST00000262764.11 | c.*11-112G>T | intron_variant | 1 | NM_024419.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000460 AC: 7AN: 152192Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000120 AC: 30AN: 250732Hom.: 0 AF XY: 0.0000885 AC XY: 12AN XY: 135542
GnomAD4 exome AF: 0.000210 AC: 307AN: 1461666Hom.: 1 Cov.: 31 AF XY: 0.000176 AC XY: 128AN XY: 727120
GnomAD4 genome ? AF: 0.0000460 AC: 7AN: 152192Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74356
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 01, 2022 | The c.13346C>A (p.A4449E) alteration is located in exon 81 (coding exon 80) of the DNAH17 gene. This alteration results from a C to A substitution at nucleotide position 13346, causing the alanine (A) at amino acid position 4449 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at