9-215012-C-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 2P and 10B. PM2BP4_StrongBP6_ModerateBS1
The NM_203447.4(DOCK8):c.36C>G(p.Phe12Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000722 in 1,592,276 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 (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. F12V) has been classified as Uncertain significance.
Frequency
Consequence
NM_203447.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DOCK8 | NM_203447.4 | c.36C>G | p.Phe12Leu | missense_variant | 1/48 | ENST00000432829.7 | |
DOCK8-AS1 | NR_160804.1 | n.739G>C | non_coding_transcript_exon_variant | 1/1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DOCK8 | ENST00000432829.7 | c.36C>G | p.Phe12Leu | missense_variant | 1/48 | 1 | NM_203447.4 | ||
DOCK8-AS1 | ENST00000648587.1 | n.730G>C | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000657 AC: 10AN: 152144Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.000225 AC: 46AN: 204244Hom.: 0 AF XY: 0.000227 AC XY: 26AN XY: 114698
GnomAD4 exome AF: 0.0000729 AC: 105AN: 1440024Hom.: 0 Cov.: 112 AF XY: 0.0000712 AC XY: 51AN XY: 716076
GnomAD4 genome ? AF: 0.0000657 AC: 10AN: 152252Hom.: 0 Cov.: 34 AF XY: 0.0000537 AC XY: 4AN XY: 74458
ClinVar
Submissions by phenotype
Autosomal recessive hyper-IgE syndrome Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 30, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at