rs1555997404
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_016120.4(RLIM):āc.1373G>Cā(p.Ser458Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000364 in 1,097,884 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_016120.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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 |
---|---|---|---|---|---|---|---|---|---|---|
RLIM | ENST00000332687.11 | c.1373G>C | p.Ser458Thr | missense_variant | Exon 4 of 4 | 1 | NM_016120.4 | ENSP00000328059.6 | ||
RLIM | ENST00000349225.2 | c.1373G>C | p.Ser458Thr | missense_variant | Exon 5 of 5 | 2 | ENSP00000253571.3 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD4 exome AF: 0.00000364 AC: 4AN: 1097884Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 1AN XY: 363254
GnomAD4 genome Cov.: 23
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.