17-42761313-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005854.3(RAMP2):c.52C>G(p.Arg18Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000338 in 1,301,960 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005854.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RAMP2 | NM_005854.3 | c.52C>G | p.Arg18Gly | missense_variant | Exon 1 of 4 | ENST00000253796.10 | NP_005845.2 | |
RAMP2-AS1 | NR_024461.1 | n.-56G>C | upstream_gene_variant | |||||
RAMP2-AS1 | NR_024462.1 | n.-56G>C | upstream_gene_variant |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000920 AC: 14AN: 152116Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000261 AC: 30AN: 1149844Hom.: 0 Cov.: 30 AF XY: 0.0000288 AC XY: 16AN XY: 556224
GnomAD4 genome AF: 0.0000920 AC: 14AN: 152116Hom.: 0 Cov.: 32 AF XY: 0.0000942 AC XY: 7AN XY: 74304
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.52C>G (p.R18G) alteration is located in exon 1 (coding exon 1) of the RAMP2 gene. This alteration results from a C to G substitution at nucleotide position 52, causing the arginine (R) at amino acid position 18 to be replaced by a glycine (G). 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