10-110498303-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004419.4(DUSP5):c.182C>G(p.Ser61Trp) variant causes a missense change. The variant allele was found at a frequency of 0.00000156 in 1,285,626 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004419.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000659 AC: 1AN: 151838Hom.: 0 AF XY: 0.0000114 AC XY: 1AN XY: 87608
GnomAD4 exome AF: 0.00000156 AC: 2AN: 1285626Hom.: 0 Cov.: 31 AF XY: 0.00000157 AC XY: 1AN XY: 637584
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.182C>G (p.S61W) alteration is located in exon 1 (coding exon 1) of the DUSP5 gene. This alteration results from a C to G substitution at nucleotide position 182, causing the serine (S) at amino acid position 61 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at