NM_173628.4:c.13296C>T
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_StrongBP6_ModerateBP7BS1BS2
The NM_173628.4(DNAH17):c.13296C>T(p.Arg4432Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0032 in 1,614,034 control chromosomes in the GnomAD database, including 13 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_173628.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAH17 | NM_173628.4 | c.13296C>T | p.Arg4432Arg | synonymous_variant | Exon 81 of 81 | ENST00000389840.7 | NP_775899.3 | |
PGS1 | NM_024419.5 | c.*11-62G>A | intron_variant | Intron 9 of 9 | ENST00000262764.11 | NP_077733.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH17 | ENST00000389840.7 | c.13296C>T | p.Arg4432Arg | synonymous_variant | Exon 81 of 81 | 5 | NM_173628.4 | ENSP00000374490.6 | ||
PGS1 | ENST00000262764.11 | c.*11-62G>A | intron_variant | Intron 9 of 9 | 1 | NM_024419.5 | ENSP00000262764.5 |
Frequencies
GnomAD3 genomes AF: 0.00196 AC: 298AN: 152212Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.00200 AC: 499AN: 249746Hom.: 1 AF XY: 0.00204 AC XY: 275AN XY: 135124
GnomAD4 exome AF: 0.00333 AC: 4869AN: 1461704Hom.: 12 Cov.: 31 AF XY: 0.00318 AC XY: 2312AN XY: 727136
GnomAD4 genome AF: 0.00196 AC: 298AN: 152330Hom.: 1 Cov.: 33 AF XY: 0.00195 AC XY: 145AN XY: 74474
ClinVar
Submissions by phenotype
DNAH17-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
not provided Benign:1
DNAH17: BP4, BP7 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at