rs1555142809
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_005055.5(RAPSN):c.635T>G(p.Met212Arg) variant causes a missense change involving the alteration of a conserved nucleotide. 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. M212V) has been classified as Uncertain significance.
Frequency
Consequence
NM_005055.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RAPSN | NM_005055.5 | c.635T>G | p.Met212Arg | missense_variant | Exon 3 of 8 | ENST00000298854.7 | NP_005046.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RAPSN | ENST00000298854.7 | c.635T>G | p.Met212Arg | missense_variant | Exon 3 of 8 | 1 | NM_005055.5 | ENSP00000298854.2 | ||
RAPSN | ENST00000352508.7 | c.635T>G | p.Met212Arg | missense_variant | Exon 3 of 6 | 1 | ENSP00000298853.3 | |||
RAPSN | ENST00000529341.1 | c.635T>G | p.Met212Arg | missense_variant | Exon 3 of 5 | 1 | ENSP00000431732.1 | |||
RAPSN | ENST00000524487.5 | c.532-790T>G | intron_variant | Intron 2 of 6 | 5 | ENSP00000435551.2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 34
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at