6-348917-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP6
The NM_001286555.3(DUSP22):c.584C>T(p.Pro195Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00473 in 1,610,170 control chromosomes in the GnomAD database, including 1 homozygotes. 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 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00393 AC: 598AN: 152178Hom.: 0 Cov.: 65
GnomAD3 exomes AF: 0.00356 AC: 866AN: 242994Hom.: 0 AF XY: 0.00342 AC XY: 451AN XY: 131708
GnomAD4 exome AF: 0.00481 AC: 7012AN: 1457874Hom.: 1 Cov.: 115 AF XY: 0.00464 AC XY: 3365AN XY: 725042
GnomAD4 genome AF: 0.00393 AC: 598AN: 152296Hom.: 0 Cov.: 65 AF XY: 0.00391 AC XY: 291AN XY: 74470
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