7-97006051-GGCAGCAGCAGCAGCAGCAGCA-GGCAGCA
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_005222.4(DLX6):c.84_98delGCAGCAGCAGCAGCA(p.Gln29_Gln33del) variant causes a disruptive inframe deletion change. The variant allele was found at a frequency of 0.0000303 in 1,582,050 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0000067 ( 0 hom., cov: 29)
Exomes 𝑓: 0.000033 ( 0 hom. )
Consequence
DLX6
NM_005222.4 disruptive_inframe_deletion
NM_005222.4 disruptive_inframe_deletion
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 6.66
Genes affected
DLX6 (HGNC:2919): (distal-less homeobox 6) This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. This family is comprised of at least 6 different members that encode proteins with roles in forebrain and craniofacial development. This gene is in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7. [provided by RefSeq, Jul 2008]
Genome browser will be placed here
ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -4 ACMG points.
BS2
High AC in GnomAdExome4 at 47 AD gene.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000666 AC: 1AN: 150048Hom.: 0 Cov.: 29
GnomAD3 genomes
AF:
AC:
1
AN:
150048
Hom.:
Cov.:
29
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
GnomAD4 exome AF: 0.0000328 AC: 47AN: 1432002Hom.: 0 AF XY: 0.0000338 AC XY: 24AN XY: 710120
GnomAD4 exome
AF:
AC:
47
AN:
1432002
Hom.:
AF XY:
AC XY:
24
AN XY:
710120
Gnomad4 AFR exome
AF:
Gnomad4 AMR exome
AF:
Gnomad4 ASJ exome
AF:
Gnomad4 EAS exome
AF:
Gnomad4 SAS exome
AF:
Gnomad4 FIN exome
AF:
Gnomad4 NFE exome
AF:
Gnomad4 OTH exome
AF:
GnomAD4 genome AF: 0.00000666 AC: 1AN: 150048Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 73220
GnomAD4 genome
AF:
AC:
1
AN:
150048
Hom.:
Cov.:
29
AF XY:
AC XY:
0
AN XY:
73220
Gnomad4 AFR
AF:
Gnomad4 AMR
AF:
Gnomad4 ASJ
AF:
Gnomad4 EAS
AF:
Gnomad4 SAS
AF:
Gnomad4 FIN
AF:
Gnomad4 NFE
AF:
Gnomad4 OTH
AF:
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at