chr22-41925357-C-G
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP6
The NM_052945.4(TNFRSF13C):c.*10G>C variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000872 in 1,594,404 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 Likely benign (no stars).
Frequency
Consequence
NM_052945.4 3_prime_UTR
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000725 AC: 11AN: 151804Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000297 AC: 7AN: 235932Hom.: 0 AF XY: 0.0000310 AC XY: 4AN XY: 129068
GnomAD4 exome AF: 0.0000887 AC: 128AN: 1442482Hom.: 0 Cov.: 31 AF XY: 0.0000782 AC XY: 56AN XY: 716168
GnomAD4 genome AF: 0.0000724 AC: 11AN: 151922Hom.: 0 Cov.: 32 AF XY: 0.0000943 AC XY: 7AN XY: 74242
ClinVar
Submissions by phenotype
TNFRSF13C-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at