NM_173628.4:c.7276-17_7276-8dupTCCCTCCCCT
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP6_Very_StrongBA1
The NM_173628.4(DNAH17):c.7276-17_7276-8dupTCCCTCCCCT variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00441 in 1,611,548 control chromosomes in the GnomAD database, including 305 homozygotes. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_173628.4 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0262 AC: 3987AN: 151968Hom.: 187 Cov.: 32
GnomAD3 exomes AF: 0.00613 AC: 1520AN: 247920Hom.: 57 AF XY: 0.00469 AC XY: 631AN XY: 134606
GnomAD4 exome AF: 0.00214 AC: 3116AN: 1459466Hom.: 118 Cov.: 36 AF XY: 0.00182 AC XY: 1322AN XY: 726004
GnomAD4 genome AF: 0.0262 AC: 3992AN: 152082Hom.: 187 Cov.: 32 AF XY: 0.0254 AC XY: 1891AN XY: 74378
ClinVar
Submissions by phenotype
not provided Benign:2
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DNAH17-related disorder Benign:1
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). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at