4-112515291-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_024019.4(NEUROG2):c.185G>A(p.Gly62Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000136 in 1,474,336 control chromosomes in the GnomAD database, with no homozygous occurrence. 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_024019.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NEUROG2 | ENST00000313341.4 | c.185G>A | p.Gly62Glu | missense_variant | Exon 2 of 2 | 1 | NM_024019.4 | ENSP00000317333.3 | ||
NEUROG2-AS1 | ENST00000504009.1 | n.-140C>T | upstream_gene_variant | 3 | ||||||
NEUROG2-AS1 | ENST00000506057.1 | n.-94C>T | upstream_gene_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151750Hom.: 0 Cov.: 33
GnomAD4 exome AF: 7.56e-7 AC: 1AN: 1322586Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 652200
GnomAD4 genome AF: 0.00000659 AC: 1AN: 151750Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74126
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.185G>A (p.G62E) alteration is located in exon 2 (coding exon 1) of the NEUROG2 gene. This alteration results from a G to A substitution at nucleotide position 185, causing the glycine (G) at amino acid position 62 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