1-8355453-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001042681.2(RERE):c.4633G>A(p.Gly1545Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000248 in 1,612,994 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001042681.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RERE | NM_001042681.2 | c.4633G>A | p.Gly1545Ser | missense_variant | Exon 22 of 23 | ENST00000400908.7 | NP_001036146.1 | |
RERE | NM_012102.4 | c.4633G>A | p.Gly1545Ser | missense_variant | Exon 23 of 24 | NP_036234.3 | ||
RERE | NM_001042682.2 | c.2971G>A | p.Gly991Ser | missense_variant | Exon 12 of 13 | NP_001036147.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152198Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000410 AC: 1AN: 243618Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 132358
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1460796Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 726688
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152198Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74366
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.4633G>A (p.G1545S) alteration is located in exon 23 (coding exon 21) of the RERE gene. This alteration results from a G to A substitution at nucleotide position 4633, causing the glycine (G) at amino acid position 1545 to be replaced by a serine (S). 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