1-8355526-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001042681.2(RERE):c.4560G>C(p.Met1520Ile) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (no stars).
Frequency
Consequence
NM_001042681.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RERE | NM_001042681.2 | c.4560G>C | p.Met1520Ile | missense_variant | Exon 22 of 23 | ENST00000400908.7 | NP_001036146.1 | |
RERE | NM_012102.4 | c.4560G>C | p.Met1520Ile | missense_variant | Exon 23 of 24 | NP_036234.3 | ||
RERE | NM_001042682.2 | c.2898G>C | p.Met966Ile | missense_variant | Exon 12 of 13 | NP_001036147.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
RERE-related disorder Uncertain:1
The RERE c.4560G>C variant is predicted to result in the amino acid substitution p.Met1520Ile. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.