7-97006051-GGCAGCAGCAGCAGCAGCAGCA-GGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP3BS2
The NM_005222.4(DLX6):c.87_98dupGCAGCAGCAGCA(p.Gln30_Gln33dup) variant causes a disruptive inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000126 in 1,582,054 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005222.4 disruptive_inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000267 AC: 4AN: 150048Hom.: 0 Cov.: 29
GnomAD4 exome AF: 0.0000112 AC: 16AN: 1432006Hom.: 0 Cov.: 34 AF XY: 0.0000113 AC XY: 8AN XY: 710120
GnomAD4 genome AF: 0.0000267 AC: 4AN: 150048Hom.: 0 Cov.: 29 AF XY: 0.0000273 AC XY: 2AN XY: 73220
ClinVar
Submissions by phenotype
not provided Uncertain:1
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with DLX6-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.87_98dup, results in the insertion of 4 amino acid(s) of the DLX6 protein (p.Gln41_Gln44dup), but otherwise preserves the integrity of the reading frame. -
DLX6-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). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at