17-5346796-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004703.6(RABEP1):c.655G>A(p.Glu219Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000178 in 1,568,830 control chromosomes in the GnomAD database, including 1 homozygotes. 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.655G>A | p.Glu219Lys | missense_variant | Exon 6 of 18 | 1 | NM_004703.6 | ENSP00000445408.2 | ||
RABEP1 | ENST00000341923.10 | c.655G>A | p.Glu219Lys | missense_variant | Exon 6 of 17 | 1 | ENSP00000339569.6 | |||
RABEP1 | ENST00000575475.2 | n.691G>A | non_coding_transcript_exon_variant | Exon 5 of 14 | 1 |
Frequencies
GnomAD3 genomes AF: 0.0000854 AC: 13AN: 152156Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000256 AC: 6AN: 234094Hom.: 0 AF XY: 0.0000157 AC XY: 2AN XY: 127156
GnomAD4 exome AF: 0.0000106 AC: 15AN: 1416556Hom.: 1 Cov.: 29 AF XY: 0.00000996 AC XY: 7AN XY: 702800
GnomAD4 genome AF: 0.0000854 AC: 13AN: 152274Hom.: 0 Cov.: 32 AF XY: 0.0000537 AC XY: 4AN XY: 74456
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.655G>A (p.E219K) alteration is located in exon 6 (coding exon 6) of the RABEP1 gene. This alteration results from a G to A substitution at nucleotide position 655, causing the glutamic acid (E) at amino acid position 219 to be replaced by a lysine (K). 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