13-28659090-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4BS2_Supporting
The ENST00000697716(POMP):c.-180C>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 0.000062 in 1,547,944 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
ENST00000697716 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000854 AC: 13AN: 152210Hom.: 1 Cov.: 32
GnomAD4 exome AF: 0.0000595 AC: 83AN: 1395616Hom.: 0 Cov.: 29 AF XY: 0.0000581 AC XY: 40AN XY: 688946
GnomAD4 genome AF: 0.0000853 AC: 13AN: 152328Hom.: 1 Cov.: 32 AF XY: 0.000148 AC XY: 11AN XY: 74486
ClinVar
Submissions by phenotype
not provided Uncertain:1
This variant occurs in a non-coding region of the POMP gene. It does not change the encoded amino acid sequence of the POMP protein. This variant is present in population databases (rs547781197, gnomAD 0.09%). This variant has not been reported in the literature in individuals affected with POMP-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at