14-77723221-G-C
Variant summary
Our verdict is Uncertain significance. The variant received 1 ACMG points: 2P and 1B. PM2BP4
The NM_012245.3(SNW1):c.1090C>G(p.Gln364Glu) 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 benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_012245.3 missense
Scores
Clinical Significance
Conservation
Publications
- mitochondrial encephalomyopathyInheritance: AR Classification: LIMITED Submitted by: G2P
Genome browser will be placed here
ACMG classification
Our verdict: Uncertain_significance. The variant received 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SNW1 | NM_012245.3 | c.1090C>G | p.Gln364Glu | missense_variant | Exon 11 of 14 | ENST00000261531.12 | NP_036377.1 | |
SNW1 | NM_001318844.2 | c.1090C>G | p.Gln364Glu | missense_variant | Exon 11 of 13 | NP_001305773.1 | ||
SNW1 | XM_047431112.1 | c.1034-2393C>G | intron_variant | Intron 10 of 11 | XP_047287068.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 30
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1090C>G (p.Q364E) alteration is located in exon 11 (coding exon 11) of the SNW1 gene. This alteration results from a C to G substitution at nucleotide position 1090, causing the glutamine (Q) at amino acid position 364 to be replaced by a glutamic acid (E). 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