NM_006267.5:c.182A>G
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 0P and 1B. BS2_Supporting
The NM_006267.5(RANBP2):āc.182A>Gā(p.Lys61Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000048 in 1,459,338 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_006267.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000802 AC: 2AN: 249436Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135304
GnomAD4 exome AF: 0.00000480 AC: 7AN: 1459338Hom.: 0 Cov.: 31 AF XY: 0.00000551 AC XY: 4AN XY: 725990
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Familial acute necrotizing encephalopathy Uncertain:1
This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 61 of the RANBP2 protein (p.Lys61Arg). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. ClinVar contains an entry for this variant (Variation ID: 1026826). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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