chr2-237911670-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_005855.4(RAMP1):c.334C>T(p.Arg112Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000198 in 1,613,284 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005855.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RAMP1 | ENST00000254661.5 | c.334C>T | p.Arg112Trp | missense_variant | Exon 3 of 3 | 1 | NM_005855.4 | ENSP00000254661.4 | ||
RAMP1 | ENST00000403885.1 | c.268C>T | p.Arg90Trp | missense_variant | Exon 3 of 3 | 3 | ENSP00000386046.1 | |||
RAMP1 | ENST00000404910.6 | c.268C>T | p.Arg90Trp | missense_variant | Exon 3 of 3 | 2 | ENSP00000384688.2 | |||
RAMP1 | ENST00000409726.5 | c.268C>T | p.Arg90Trp | missense_variant | Exon 4 of 4 | 3 | ENSP00000386720.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152164Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000320 AC: 8AN: 250212Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135586
GnomAD4 exome AF: 0.0000205 AC: 30AN: 1461120Hom.: 0 Cov.: 31 AF XY: 0.0000234 AC XY: 17AN XY: 726868
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152164Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74334
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.334C>T (p.R112W) alteration is located in exon 3 (coding exon 3) of the RAMP1 gene. This alteration results from a C to T substitution at nucleotide position 334, causing the arginine (R) at amino acid position 112 to be replaced by a tryptophan (W). 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