7-97006051-GGCAGCAGCAGCAGCAGCAGCA-GGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP3BS2
The NM_005222.4(DLX6):c.84_98dupGCAGCAGCAGCAGCA(p.Gln29_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 0.0000379 in 1,582,048 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: 0.00000666 AC: 1AN: 150048Hom.: 0 Cov.: 29
GnomAD4 exome AF: 0.0000412 AC: 59AN: 1432000Hom.: 0 Cov.: 34 AF XY: 0.0000465 AC XY: 33AN XY: 710118
GnomAD4 genome AF: 0.00000666 AC: 1AN: 150048Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 73220
ClinVar
Submissions by phenotype
not provided Uncertain:1
This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DLX6-related conditions. 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. This variant, c.84_98dup, results in the insertion of 5 amino acid(s) of the DLX6 protein (p.Gln40_Gln44dup), but otherwise preserves the integrity of the reading frame. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at