15-73052713-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002499.4(NEO1):c.38C>T(p.Thr13Ile) 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. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (no stars).
Frequency
Consequence
NM_002499.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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 |
---|---|---|---|---|---|---|---|---|---|---|
NEO1 | ENST00000261908.11 | c.38C>T | p.Thr13Ile | missense_variant | Exon 1 of 29 | 1 | NM_002499.4 | ENSP00000261908.6 | ||
NEO1 | ENST00000558964.5 | c.38C>T | p.Thr13Ile | missense_variant | Exon 1 of 28 | 1 | ENSP00000453200.1 | |||
NEO1 | ENST00000560262.5 | c.38C>T | p.Thr13Ile | missense_variant | Exon 1 of 28 | 1 | ENSP00000453317.1 | |||
NEO1 | ENST00000339362.9 | c.38C>T | p.Thr13Ile | missense_variant | Exon 2 of 30 | 5 | ENSP00000341198.5 |
Frequencies
GnomAD3 genomes Cov.: 29
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1211212Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 597196
GnomAD4 genome Cov.: 29
ClinVar
Submissions by phenotype
NEO1-related disorder Uncertain:1
The NEO1 c.38C>T variant is predicted to result in the amino acid substitution p.Thr13Ile. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.