NME1-NME2

Chr 17

NME1-NME2 readthrough

Also known as: NM23-LV, NMELV

The NME1-NME2 read-through transcript produces a protein of unknown function, and the clinical significance of this naturally occurring transcription between the neighboring NME1 and NME2 genes has not been determined. No specific diseases have been associated with mutations in this read-through transcript.

Summary from RefSeq
Research Assistant →
0
Active trials
2
Pubs (1 yr)
11
P/LP submissions
0%
P/LP missense
1.46
LOEUF
Mechanism
Clinical SummaryNME1-NME2
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
11 unique Pathogenic / Likely Pathogenic· 6 VUS of 26 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.46LOEUF
pLI 0.000
Z-score 0.27
OE 0.92 (0.601.46)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.88Z-score
OE missense 0.81 (0.700.93)
132 obs / 163.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.92 (0.601.46)
00.351.4
Missense OE0.81 (0.700.93)
00.61.4
Synonymous OE0.89
01.21.6
LoF obs/exp: 13 / 14.1Missense obs/exp: 132 / 163.5Syn Z: 0.67

ClinVar Variant Classifications

26 submitted variants in ClinVar

Classification Summary

Pathogenic10
Likely Pathogenic1
VUS6
Likely Benign3
Benign4
10
Pathogenic
1
Likely Pathogenic
6
VUS
3
Likely Benign
4
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
10
0
10
Likely Pathogenic
0
0
1
0
1
VUS
1
5
0
0
6
Likely Benign
1
1
0
1
3
Benign
0
0
4
0
4
Total2615124

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

NME1-NME2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →