2-108764136-G-A
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_006267.5(RANBP2):c.3597G>A(p.Ala1199Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00391 in 1,613,976 control chromosomes in the GnomAD database, including 220 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.3597G>A | p.Ala1199Ala | synonymous_variant | Exon 20 of 29 | 1 | NM_006267.5 | ENSP00000283195.6 | ||
RANBP2 | ENST00000697737.1 | c.2602+5588G>A | intron_variant | Intron 18 of 26 | ENSP00000513426.1 | |||||
RANBP2 | ENST00000697740.1 | c.2524+5588G>A | intron_variant | Intron 18 of 26 | ENSP00000513427.1 |
Frequencies
GnomAD3 genomes AF: 0.0209 AC: 3178AN: 152044Hom.: 103 Cov.: 32
GnomAD3 exomes AF: 0.00556 AC: 1397AN: 251232Hom.: 54 AF XY: 0.00384 AC XY: 522AN XY: 135764
GnomAD4 exome AF: 0.00213 AC: 3111AN: 1461814Hom.: 115 Cov.: 35 AF XY: 0.00179 AC XY: 1300AN XY: 727196
GnomAD4 genome AF: 0.0210 AC: 3193AN: 152162Hom.: 105 Cov.: 32 AF XY: 0.0202 AC XY: 1506AN XY: 74408
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