13-43344627-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001347969.2(ENOX1):c.947G>C(p.Arg316Pro) 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_001347969.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ENOX1 | NM_001347969.2 | c.947G>C | p.Arg316Pro | missense_variant | Exon 9 of 17 | ENST00000690772.1 | NP_001334898.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENOX1 | ENST00000690772.1 | c.947G>C | p.Arg316Pro | missense_variant | Exon 9 of 17 | NM_001347969.2 | ENSP00000509229.1 | |||
ENOX1 | ENST00000261488.10 | c.947G>C | p.Arg316Pro | missense_variant | Exon 9 of 17 | 1 | ENSP00000261488.6 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.947G>C (p.R316P) alteration is located in exon 9 (coding exon 6) of the ENOX1 gene. This alteration results from a G to C substitution at nucleotide position 947, causing the arginine (R) at amino acid position 316 to be replaced by a proline (P). 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.