12-2004298-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_152640.5(DCP1B):c.134A>T(p.His45Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152640.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DCP1B | ENST00000280665.11 | c.134A>T | p.His45Leu | missense_variant | Exon 1 of 9 | 1 | NM_152640.5 | ENSP00000280665.6 | ||
CACNA1C | ENST00000682544.1 | c.139+33097T>A | intron_variant | Intron 1 of 49 | ENSP00000507184.1 | |||||
CACNA1C | ENST00000683824.1 | c.139+33097T>A | intron_variant | Intron 1 of 47 | ENSP00000507867.1 | |||||
CACNA1C | ENST00000682462.1 | c.139+33097T>A | intron_variant | Intron 1 of 46 | ENSP00000507105.1 | |||||
CACNA1C | ENST00000683781.1 | c.139+33097T>A | intron_variant | Intron 1 of 46 | ENSP00000507434.1 | |||||
CACNA1C | ENST00000683840.1 | c.139+33097T>A | intron_variant | Intron 1 of 46 | ENSP00000507612.1 | |||||
CACNA1C | ENST00000683956.1 | c.139+33097T>A | intron_variant | Intron 1 of 46 | ENSP00000506882.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.134A>T (p.H45L) alteration is located in exon 1 (coding exon 1) of the DCP1B gene. This alteration results from a A to T substitution at nucleotide position 134, causing the histidine (H) at amino acid position 45 to be replaced by a leucine (L). 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