chr2-108753951-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 3P and 1B. PM2PP2BP4
The NM_006267.5(RANBP2):c.2182A>T(p.Asn728Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,238 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. N728D) has been classified as Uncertain significance.
Frequency
Consequence
NM_006267.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RANBP2 | NM_006267.5 | c.2182A>T | p.Asn728Tyr | missense_variant | 15/29 | ENST00000283195.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RANBP2 | ENST00000283195.11 | c.2182A>T | p.Asn728Tyr | missense_variant | 15/29 | 1 | NM_006267.5 | P1 | |
RANBP2 | ENST00000697737.1 | c.2182A>T | p.Asn728Tyr | missense_variant | 15/27 | ||||
RANBP2 | ENST00000697740.1 | c.2104A>T | p.Asn702Tyr | missense_variant | 15/27 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152238Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 249494Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135420
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000219 AC: 32AN: 1459634Hom.: 0 Cov.: 34 AF XY: 0.0000289 AC XY: 21AN XY: 726122
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152238Hom.: 0 Cov.: 31 AF XY: 0.0000134 AC XY: 1AN XY: 74382
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at