7-97006070-G-A
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_005222.4(DLX6):c.93G>A(p.Gln31Gln) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000637 in 1,570,294 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_005222.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000663 AC: 1AN: 150822Hom.: 0 Cov.: 29
GnomAD4 exome AF: 0.00000634 AC: 9AN: 1419472Hom.: 0 Cov.: 34 AF XY: 0.00000427 AC XY: 3AN XY: 702698
GnomAD4 genome AF: 0.00000663 AC: 1AN: 150822Hom.: 0 Cov.: 29 AF XY: 0.0000136 AC XY: 1AN XY: 73604
ClinVar
Submissions by phenotype
not provided Benign:1
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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