rs61748147
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_006267.5(RANBP2):c.2955G>A(p.Pro985Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00697 in 1,614,010 control chromosomes in the GnomAD database, including 92 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_006267.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RANBP2 | ENST00000283195.11 | c.2955G>A | p.Pro985Pro | synonymous_variant | Exon 20 of 29 | 1 | NM_006267.5 | ENSP00000283195.6 | ||
RANBP2 | ENST00000697737.1 | c.2602+4946G>A | intron_variant | Intron 18 of 26 | ENSP00000513426.1 | |||||
RANBP2 | ENST00000697740.1 | c.2524+4946G>A | intron_variant | Intron 18 of 26 | ENSP00000513427.1 |
Frequencies
GnomAD3 genomes AF: 0.00501 AC: 762AN: 152070Hom.: 4 Cov.: 31
GnomAD3 exomes AF: 0.00801 AC: 2010AN: 251066Hom.: 23 AF XY: 0.00828 AC XY: 1124AN XY: 135682
GnomAD4 exome AF: 0.00718 AC: 10493AN: 1461822Hom.: 88 Cov.: 34 AF XY: 0.00750 AC XY: 5457AN XY: 727214
GnomAD4 genome AF: 0.00501 AC: 763AN: 152188Hom.: 4 Cov.: 31 AF XY: 0.00535 AC XY: 398AN XY: 74398
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. -
Familial acute necrotizing encephalopathy Benign:1
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not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at