15-74852122-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_005697.5(SCAMP2):c.290C>G(p.Ala97Gly) variant causes a missense change. The variant allele was found at a frequency of 0.0000226 in 1,592,352 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar 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 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SCAMP2 | NM_005697.5 | c.290C>G | p.Ala97Gly | missense_variant | Exon 4 of 9 | ENST00000268099.13 | NP_005688.2 | |
SCAMP2 | NM_001320778.2 | c.419C>G | p.Ala140Gly | missense_variant | Exon 5 of 10 | NP_001307707.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152208Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000300 AC: 7AN: 233620Hom.: 0 AF XY: 0.0000237 AC XY: 3AN XY: 126634
GnomAD4 exome AF: 0.0000208 AC: 30AN: 1440026Hom.: 0 Cov.: 30 AF XY: 0.0000265 AC XY: 19AN XY: 715928
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152326Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74482
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.290C>G (p.A97G) alteration is located in exon 4 (coding exon 4) of the SCAMP2 gene. This alteration results from a C to G substitution at nucleotide position 290, causing the alanine (A) at amino acid position 97 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