2-108729151-A-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_006267.5(RANBP2):āc.92A>Gā(p.Tyr31Cys) variant causes a missense change. The variant allele was found at a frequency of 0.000136 in 1,572,814 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 Uncertain significance (ā ).
Frequency
Consequence
NM_006267.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000158 AC: 24AN: 152222Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000288 AC: 67AN: 232486Hom.: 0 AF XY: 0.000299 AC XY: 38AN XY: 127042
GnomAD4 exome AF: 0.000134 AC: 190AN: 1420592Hom.: 0 Cov.: 31 AF XY: 0.000136 AC XY: 96AN XY: 706972
GnomAD4 genome AF: 0.000158 AC: 24AN: 152222Hom.: 0 Cov.: 32 AF XY: 0.000148 AC XY: 11AN XY: 74370
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.92A>G (p.Y31C) alteration is located in exon 2 (coding exon 2) of the RANBP2 gene. This alteration results from a A to G substitution at nucleotide position 92, causing the tyrosine (Y) at amino acid position 31 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at