rs9896398
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_173628.4(DNAH17):āc.4531A>Gā(p.Thr1511Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.607 in 1,613,342 control chromosomes in the GnomAD database, including 301,130 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/16 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T1511I) has been classified as Uncertain significance.
Frequency
Consequence
NM_173628.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH17 | NM_173628.4 | c.4531A>G | p.Thr1511Ala | missense_variant | 28/81 | ENST00000389840.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH17 | ENST00000389840.7 | c.4531A>G | p.Thr1511Ala | missense_variant | 28/81 | 5 | NM_173628.4 | P1 | |
DNAH17 | ENST00000587177.1 | n.583A>G | non_coding_transcript_exon_variant | 2/7 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.624 AC: 94855AN: 152032Hom.: 30319 Cov.: 34
GnomAD3 exomes AF: 0.563 AC: 140036AN: 248814Hom.: 40972 AF XY: 0.568 AC XY: 76683AN XY: 134990
GnomAD4 exome AF: 0.605 AC: 884358AN: 1461192Hom.: 270784 Cov.: 89 AF XY: 0.603 AC XY: 438577AN XY: 726794
GnomAD4 genome ? AF: 0.624 AC: 94929AN: 152150Hom.: 30346 Cov.: 34 AF XY: 0.617 AC XY: 45870AN XY: 74360
ClinVar
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Mar 29, 2016 | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency - |
DNAH17-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 17, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | May 04, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at