12-15957007-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The ENST00000526530(DERA):c.-162C>T variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000226 in 1,461,636 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
ENST00000526530 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DERA | NM_015954.4 | c.103C>T | p.Arg35Cys | missense_variant | Exon 2 of 9 | ENST00000428559.7 | NP_057038.2 | |
DERA | XM_024449001.2 | c.-162C>T | 5_prime_UTR_premature_start_codon_gain_variant | Exon 2 of 9 | XP_024304769.1 | |||
DERA | NM_001300779.2 | c.103C>T | p.Arg35Cys | missense_variant | Exon 2 of 8 | NP_001287708.1 | ||
DERA | XM_024449001.2 | c.-162C>T | 5_prime_UTR_variant | Exon 2 of 9 | XP_024304769.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000161 AC: 4AN: 249080Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135132
GnomAD4 exome AF: 0.0000226 AC: 33AN: 1461636Hom.: 0 Cov.: 30 AF XY: 0.0000234 AC XY: 17AN XY: 727106
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.103C>T (p.R35C) alteration is located in exon 2 (coding exon 2) of the DERA gene. This alteration results from a C to T substitution at nucleotide position 103, causing the arginine (R) at amino acid position 35 to be replaced by a cysteine (C). 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