rs34625105
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_005055.5(RAPSN):āc.614G>Cā(p.Arg205Pro) variant causes a missense change. The variant allele was found at a frequency of 0.0000031 in 1,614,144 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R205Q) has been classified as Benign.
Frequency
Consequence
NM_005055.5 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RAPSN | NM_005055.5 | c.614G>C | p.Arg205Pro | missense_variant | 3/8 | ENST00000298854.7 | |
LOC124902673 | XR_007062669.1 | n.145-4595C>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RAPSN | ENST00000298854.7 | c.614G>C | p.Arg205Pro | missense_variant | 3/8 | 1 | NM_005055.5 | P1 | |
RAPSN | ENST00000352508.7 | c.614G>C | p.Arg205Pro | missense_variant | 3/6 | 1 | |||
RAPSN | ENST00000529341.1 | c.614G>C | p.Arg205Pro | missense_variant | 3/5 | 1 | |||
RAPSN | ENST00000524487.5 | c.532-811G>C | intron_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152252Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251422Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135890
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461892Hom.: 0 Cov.: 34 AF XY: 0.00000138 AC XY: 1AN XY: 727246
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152252Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74382
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at