15-32643707-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001144757.3(SCG5):c.115G>C(p.Asp39His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001144757.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SCG5 | NM_001144757.3 | c.115G>C | p.Asp39His | missense_variant | Exon 2 of 6 | ENST00000300175.9 | NP_001138229.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SCG5 | ENST00000300175.9 | c.115G>C | p.Asp39His | missense_variant | Exon 2 of 6 | 1 | NM_001144757.3 | ENSP00000300175.4 | ||
ARHGAP11A-SCG5 | ENST00000692248.1 | c.1357G>C | p.Asp453His | missense_variant | Exon 10 of 14 | ENSP00000510771.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.115G>C (p.D39H) alteration is located in exon 2 (coding exon 1) of the SCG5 gene. This alteration results from a G to C substitution at nucleotide position 115, causing the aspartic acid (D) at amino acid position 39 to be replaced by a histidine (H). 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
Publications
No publications associated with this variant yet.