4-139045332-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_012118.4(NOCT):c.1154C>G(p.Ala385Gly) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_012118.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NOCT | ENST00000280614.4 | c.1154C>G | p.Ala385Gly | missense_variant | Exon 3 of 3 | 1 | NM_012118.4 | ENSP00000280614.2 | ||
ELF2 | ENST00000515489.1 | n.272+14992G>C | intron_variant | Intron 1 of 1 | 2 | |||||
NOCT | ENST00000630479.1 | n.*505-230C>G | intron_variant | Intron 2 of 2 | 5 | ENSP00000486546.1 | ||||
NOCT | ENST00000515616.1 | n.*227C>G | downstream_gene_variant | 1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1154C>G (p.A385G) alteration is located in exon 3 (coding exon 3) of the NOCT gene. This alteration results from a C to G substitution at nucleotide position 1154, causing the alanine (A) at amino acid position 385 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
Publications
No publications associated with this variant yet.