15-74852110-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_005697.5(SCAMP2):c.302G>C(p.Arg101Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. R101H) has been classified as Uncertain significance.
Frequency
Consequence
NM_005697.5 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 |
---|---|---|---|---|---|---|---|---|
SCAMP2 | NM_005697.5 | c.302G>C | p.Arg101Pro | missense_variant | Exon 4 of 9 | ENST00000268099.13 | NP_005688.2 | |
SCAMP2 | NM_001320778.2 | c.431G>C | p.Arg144Pro | missense_variant | Exon 5 of 10 | NP_001307707.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000427 AC: 1AN: 234314Hom.: 0 AF XY: 0.00000788 AC XY: 1AN XY: 126978
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at