NM_004703.6:c.569C>T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_004703.6(RABEP1):c.569C>T(p.Pro190Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000123 in 1,461,250 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_004703.6 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 |
---|---|---|---|---|---|---|---|---|---|---|
RABEP1 | ENST00000537505.6 | c.569C>T | p.Pro190Leu | missense_variant | Exon 5 of 18 | 1 | NM_004703.6 | ENSP00000445408.2 | ||
RABEP1 | ENST00000341923.10 | c.569C>T | p.Pro190Leu | missense_variant | Exon 5 of 17 | 1 | ENSP00000339569.6 | |||
RABEP1 | ENST00000575475.2 | n.605C>T | non_coding_transcript_exon_variant | Exon 4 of 14 | 1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249248Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135226
GnomAD4 exome AF: 0.0000123 AC: 18AN: 1461250Hom.: 0 Cov.: 30 AF XY: 0.00000963 AC XY: 7AN XY: 726932
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.569C>T (p.P190L) alteration is located in exon 5 (coding exon 5) of the RABEP1 gene. This alteration results from a C to T substitution at nucleotide position 569, causing the proline (P) at amino acid position 190 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