chr11-20783739-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_006157.5(NELL1):c.244C>G(p.Arg82Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,461,624 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R82W) has been classified as Uncertain significance.
Frequency
Consequence
NM_006157.5 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 |
---|---|---|---|---|---|---|---|---|
NELL1 | NM_006157.5 | c.244C>G | p.Arg82Gly | missense_variant | Exon 3 of 20 | ENST00000357134.10 | NP_006148.2 | |
NELL1 | NM_001288713.1 | c.328C>G | p.Arg110Gly | missense_variant | Exon 4 of 21 | NP_001275642.1 | ||
NELL1 | NM_201551.2 | c.244C>G | p.Arg82Gly | missense_variant | Exon 3 of 19 | NP_963845.1 | ||
NELL1 | NM_001288714.1 | c.244C>G | p.Arg82Gly | missense_variant | Exon 3 of 19 | NP_001275643.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461624Hom.: 0 Cov.: 29 AF XY: 0.00000138 AC XY: 1AN XY: 727114
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.244C>G (p.R82G) alteration is located in exon 3 (coding exon 3) of the NELL1 gene. This alteration results from a C to G substitution at nucleotide position 244, causing the arginine (R) at amino acid position 82 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.