18-72756139-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_138966.5(NETO1):c.877G>A(p.Glu293Lys) variant causes a missense change. The variant allele was found at a frequency of 0.00000509 in 1,571,046 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_138966.5 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 |
---|---|---|---|---|---|---|---|---|---|---|
NETO1 | ENST00000327305.11 | c.877G>A | p.Glu293Lys | missense_variant | Exon 8 of 11 | 1 | NM_138966.5 | ENSP00000313088.6 | ||
NETO1 | ENST00000583169.5 | c.877G>A | p.Glu293Lys | missense_variant | Exon 8 of 11 | 1 | ENSP00000464312.1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 151878Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000282 AC: 4AN: 1419050Hom.: 0 Cov.: 24 AF XY: 0.00000424 AC XY: 3AN XY: 708370
GnomAD4 genome AF: 0.0000263 AC: 4AN: 151996Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74308
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.877G>A (p.E293K) alteration is located in exon 8 (coding exon 8) of the NETO1 gene. This alteration results from a G to A substitution at nucleotide position 877, causing the glutamic acid (E) at amino acid position 293 to be replaced by a lysine (K). 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