8-33592123-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_024025.3(DUSP26):c.526G>A(p.Val176Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000142 in 1,614,038 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024025.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DUSP26 | NM_024025.3 | c.526G>A | p.Val176Met | missense_variant | Exon 4 of 4 | ENST00000256261.9 | NP_076930.1 | |
DUSP26 | NM_001305115.2 | c.526G>A | p.Val176Met | missense_variant | Exon 4 of 4 | NP_001292044.1 | ||
DUSP26 | NM_001305116.2 | c.526G>A | p.Val176Met | missense_variant | Exon 3 of 3 | NP_001292045.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DUSP26 | ENST00000256261.9 | c.526G>A | p.Val176Met | missense_variant | Exon 4 of 4 | 1 | NM_024025.3 | ENSP00000256261.4 | ||
DUSP26 | ENST00000523956.1 | c.526G>A | p.Val176Met | missense_variant | Exon 4 of 4 | 5 | ENSP00000429176.1 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152058Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000161 AC: 4AN: 249042Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 134802
GnomAD4 exome AF: 0.0000150 AC: 22AN: 1461862Hom.: 0 Cov.: 30 AF XY: 0.00000825 AC XY: 6AN XY: 727236
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152176Hom.: 0 Cov.: 31 AF XY: 0.0000134 AC XY: 1AN XY: 74394
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.526G>A (p.V176M) alteration is located in exon 4 (coding exon 3) of the DUSP26 gene. This alteration results from a G to A substitution at nucleotide position 526, causing the valine (V) at amino acid position 176 to be replaced by a methionine (M). 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