16-47083307-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_018092.5(NETO2):c.1492G>A(p.Asp498Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000616 in 1,461,890 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018092.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NETO2 | NM_018092.5 | c.1492G>A | p.Asp498Asn | missense_variant | 9/9 | ENST00000562435.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NETO2 | ENST00000562435.6 | c.1492G>A | p.Asp498Asn | missense_variant | 9/9 | 1 | NM_018092.5 | P4 | |
NETO2 | ENST00000303155.9 | c.1471G>A | p.Asp491Asn | missense_variant | 9/9 | 5 | A1 | ||
NETO2 | ENST00000562559.5 | c.1012G>A | p.Asp338Asn | missense_variant | 5/5 | 3 | |||
NETO2 | ENST00000564667.1 | c.601G>A | p.Asp201Asn | missense_variant | 2/2 | 4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1461890Hom.: 0 Cov.: 31 AF XY: 0.00000550 AC XY: 4AN XY: 727246
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.