2-108719562-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_006267.5(RANBP2):c.-45C>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 0.034 in 1,578,448 control chromosomes in the GnomAD database, including 1,001 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_006267.5 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RANBP2 | ENST00000283195 | c.-45C>T | 5_prime_UTR_premature_start_codon_gain_variant | Exon 1 of 29 | 1 | NM_006267.5 | ENSP00000283195.6 | |||
RANBP2 | ENST00000283195 | c.-45C>T | 5_prime_UTR_variant | Exon 1 of 29 | 1 | NM_006267.5 | ENSP00000283195.6 |
Frequencies
GnomAD3 genomes AF: 0.0229 AC: 3487AN: 152270Hom.: 70 Cov.: 32
GnomAD3 exomes AF: 0.0256 AC: 4997AN: 195412Hom.: 76 AF XY: 0.0274 AC XY: 2889AN XY: 105420
GnomAD4 exome AF: 0.0352 AC: 50143AN: 1426060Hom.: 931 Cov.: 30 AF XY: 0.0356 AC XY: 25172AN XY: 706168
GnomAD4 genome AF: 0.0229 AC: 3487AN: 152388Hom.: 70 Cov.: 32 AF XY: 0.0213 AC XY: 1591AN XY: 74522
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at