5-112976958-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_152624.6(DCP2):c.25C>T(p.Pro9Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000683 in 1,596,348 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 Uncertain significance (★).
Frequency
Consequence
NM_152624.6 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: 0.000486 AC: 74AN: 152170Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000338 AC: 83AN: 245786Hom.: 0 AF XY: 0.000323 AC XY: 43AN XY: 132954
GnomAD4 exome AF: 0.000704 AC: 1016AN: 1444178Hom.: 1 Cov.: 31 AF XY: 0.000654 AC XY: 468AN XY: 715776
GnomAD4 genome AF: 0.000486 AC: 74AN: 152170Hom.: 0 Cov.: 32 AF XY: 0.000404 AC XY: 30AN XY: 74328
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.25C>T (p.P9S) alteration is located in exon 1 (coding exon 1) of the DCP2 gene. This alteration results from a C to T substitution at nucleotide position 25, causing the proline (P) at amino acid position 9 to be replaced by a serine (S). 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