14-21468680-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_032846.4(RAB2B):c.259G>A(p.Asp87Asn) variant causes a missense change. The variant allele was found at a frequency of 0.00000954 in 1,571,616 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032846.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RAB2B | ENST00000397762.6 | c.259G>A | p.Asp87Asn | missense_variant | Exon 4 of 8 | 1 | NM_032846.4 | ENSP00000380869.1 | ||
RAB2B | ENST00000417141.5 | n.187-4913G>A | intron_variant | Intron 3 of 5 | 1 | ENSP00000405441.1 | ||||
RAB2B | ENST00000649801.1 | c.259G>A | p.Asp87Asn | missense_variant | Exon 4 of 9 | ENSP00000497782.1 | ||||
RAB2B | ENST00000461909.1 | n.287G>A | non_coding_transcript_exon_variant | Exon 3 of 7 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000661 AC: 1AN: 151266Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00000986 AC: 14AN: 1420350Hom.: 0 Cov.: 31 AF XY: 0.00000568 AC XY: 4AN XY: 704770
GnomAD4 genome AF: 0.00000661 AC: 1AN: 151266Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 73756
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.259G>A (p.D87N) alteration is located in exon 4 (coding exon 4) of the RAB2B gene. This alteration results from a G to A substitution at nucleotide position 259, causing the aspartic acid (D) at amino acid position 87 to be replaced by an asparagine (N). 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