2-96144025-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004418.4(DUSP2):āc.743A>Cā(p.Asn248Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000216 in 1,613,790 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_004418.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000177 AC: 27AN: 152234Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000136 AC: 34AN: 249596Hom.: 0 AF XY: 0.000163 AC XY: 22AN XY: 135246
GnomAD4 exome AF: 0.000220 AC: 321AN: 1461438Hom.: 0 Cov.: 32 AF XY: 0.000227 AC XY: 165AN XY: 727008
GnomAD4 genome AF: 0.000177 AC: 27AN: 152352Hom.: 0 Cov.: 33 AF XY: 0.000148 AC XY: 11AN XY: 74508
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 23, 2021 | The c.743A>C (p.N248T) alteration is located in exon 4 (coding exon 4) of the DUSP2 gene. This alteration results from a A to C substitution at nucleotide position 743, causing the asparagine (N) at amino acid position 248 to be replaced by a threonine (T). 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