17-5350586-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004703.6(RABEP1):c.920C>T(p.Ser307Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,786 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.920C>T | p.Ser307Leu | missense_variant | Exon 7 of 18 | 1 | NM_004703.6 | ENSP00000445408.2 | ||
RABEP1 | ENST00000341923.10 | c.920C>T | p.Ser307Leu | missense_variant | Exon 7 of 17 | 1 | ENSP00000339569.6 | |||
RABEP1 | ENST00000575475.2 | n.956C>T | non_coding_transcript_exon_variant | Exon 6 of 14 | 1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461786Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727202
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.920C>T (p.S307L) alteration is located in exon 7 (coding exon 7) of the RABEP1 gene. This alteration results from a C to T substitution at nucleotide position 920, causing the serine (S) at amino acid position 307 to be replaced by a leucine (L). 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
Publications
No publications associated with this variant yet.