NM_004703.6:c.38C>G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004703.6(RABEP1):āc.38C>Gā(p.Ser13Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000324 in 1,605,466 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_004703.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RABEP1 | ENST00000537505.6 | c.38C>G | p.Ser13Cys | missense_variant | Exon 2 of 18 | 1 | NM_004703.6 | ENSP00000445408.2 | ||
RABEP1 | ENST00000341923.10 | c.38C>G | p.Ser13Cys | missense_variant | Exon 2 of 17 | 1 | ENSP00000339569.6 | |||
RABEP1 | ENST00000575475.2 | n.200-23252C>G | intron_variant | Intron 1 of 13 | 1 | |||||
RABEP1 | ENST00000575991.1 | c.224C>G | p.Ser75Cys | missense_variant | Exon 3 of 3 | 4 | ENSP00000459550.1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152162Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000166 AC: 4AN: 241410Hom.: 0 AF XY: 0.0000153 AC XY: 2AN XY: 130830
GnomAD4 exome AF: 0.0000330 AC: 48AN: 1453304Hom.: 0 Cov.: 30 AF XY: 0.0000401 AC XY: 29AN XY: 722524
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152162Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74336
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.38C>G (p.S13C) alteration is located in exon 2 (coding exon 2) of the RABEP1 gene. This alteration results from a C to G substitution at nucleotide position 38, causing the serine (S) at amino acid position 13 to be replaced by a cysteine (C). 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