6-345890-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6BP7
The NM_001286555.3(DUSP22):c.225C>T(p.His75His) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000843 in 1,614,028 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 (no stars).
Frequency
Consequence
NM_001286555.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000722 AC: 11AN: 152306Hom.: 0 Cov.: 61
GnomAD3 exomes AF: 0.0000954 AC: 24AN: 251460Hom.: 0 AF XY: 0.0000809 AC XY: 11AN XY: 135900
GnomAD4 exome AF: 0.0000855 AC: 125AN: 1461722Hom.: 0 Cov.: 31 AF XY: 0.0000701 AC XY: 51AN XY: 727164
GnomAD4 genome AF: 0.0000722 AC: 11AN: 152306Hom.: 0 Cov.: 61 AF XY: 0.0000672 AC XY: 5AN XY: 74412
ClinVar
Submissions by phenotype
DUSP22-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