chr12-18081262-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001286201.2(RERGL):c.544C>T(p.Arg182Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000403 in 1,613,138 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R182L) has been classified as Uncertain significance.
Frequency
Consequence
NM_001286201.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RERGL | NM_001286201.2 | c.544C>T | p.Arg182Cys | missense_variant | 5/5 | ENST00000538724.6 | |
RERGL | NM_024730.4 | c.547C>T | p.Arg183Cys | missense_variant | 6/6 | ||
RERGL | NR_104413.1 | n.494C>T | non_coding_transcript_exon_variant | 5/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RERGL | ENST00000538724.6 | c.544C>T | p.Arg182Cys | missense_variant | 5/5 | 2 | NM_001286201.2 | P1 | |
RERGL | ENST00000229002.6 | c.547C>T | p.Arg183Cys | missense_variant | 6/6 | 1 | |||
RERGL | ENST00000540148.5 | n.553C>T | non_coding_transcript_exon_variant | 5/5 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000462 AC: 7AN: 151424Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000318 AC: 8AN: 251418Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135892
GnomAD4 exome AF: 0.0000397 AC: 58AN: 1461714Hom.: 0 Cov.: 32 AF XY: 0.0000426 AC XY: 31AN XY: 727180
GnomAD4 genome ? AF: 0.0000462 AC: 7AN: 151424Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 73852
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 28, 2023 | The c.547C>T (p.R183C) alteration is located in exon 6 (coding exon 5) of the RERGL gene. This alteration results from a C to T substitution at nucleotide position 547, causing the arginine (R) at amino acid position 183 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