NM_015658.4:c.1984A>G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_015658.4(NOC2L):c.1984A>G(p.Lys662Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015658.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NOC2L | ENST00000327044.7 | c.1984A>G | p.Lys662Glu | missense_variant | Exon 17 of 19 | 1 | NM_015658.4 | ENSP00000317992.6 | ||
NOC2L | ENST00000477976.5 | n.3431A>G | non_coding_transcript_exon_variant | Exon 15 of 17 | 5 | |||||
NOC2L | ENST00000483767.5 | n.840A>G | non_coding_transcript_exon_variant | Exon 3 of 5 | 2 | |||||
NOC2L | ENST00000496938.1 | n.-25A>G | upstream_gene_variant | 5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1984A>G (p.K662E) alteration is located in exon 17 (coding exon 17) of the NOC2L gene. This alteration results from a A to G substitution at nucleotide position 1984, causing the lysine (K) at amino acid position 662 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
Publications
No publications associated with this variant yet.