NM_004703.6:c.49C>T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004703.6(RABEP1):c.49C>T(p.Arg17Trp) variant causes a missense change. The variant allele was found at a frequency of 0.00000497 in 1,608,416 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004703.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RABEP1 | ENST00000537505.6 | c.49C>T | p.Arg17Trp | missense_variant | Exon 2 of 18 | 1 | NM_004703.6 | ENSP00000445408.2 | ||
RABEP1 | ENST00000341923.10 | c.49C>T | p.Arg17Trp | missense_variant | Exon 2 of 17 | 1 | ENSP00000339569.6 | |||
RABEP1 | ENST00000575475.2 | n.200-23241C>T | intron_variant | Intron 1 of 13 | 1 | |||||
RABEP1 | ENST00000575991.1 | c.235C>T | p.Arg79Trp | missense_variant | Exon 3 of 3 | 4 | ENSP00000459550.1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152054Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000123 AC: 3AN: 244838Hom.: 0 AF XY: 0.00000754 AC XY: 1AN XY: 132688
GnomAD4 exome AF: 0.00000343 AC: 5AN: 1456362Hom.: 0 Cov.: 30 AF XY: 0.00000414 AC XY: 3AN XY: 724168
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152054Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74260
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.49C>T (p.R17W) alteration is located in exon 2 (coding exon 2) of the RABEP1 gene. This alteration results from a C to T substitution at nucleotide position 49, causing the arginine (R) at amino acid position 17 to be replaced by a tryptophan (W). 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