TMEM256-PLSCR3

Chr 17

TMEM256-PLSCR3 readthrough (NMD candidate)

Also known as: C17orf61-PLSCR3

NCBI Gene: 100529211ENSG00000262481

This locus represents naturally occurring read-through transcription between the neighboring chromosome 17 open reading frame 61 (C17orf61) and phospholipid scramblase 3 (PLSCR3) genes. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Jan 2011]

38
ClinVar variants
10
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— TMEM256-PLSCR3
📋
ClinVar Variants
10 Pathogenic / Likely Pathogenic· 25 VUS of 38 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

38 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic8
Likely Pathogenic2
VUS25
Likely Benign2
Benign1
8
Pathogenic
2
Likely Pathogenic
25
VUS
2
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
8
0
8
Likely Pathogenic
1
0
1
0
2
VUS
0
24
1
0
25
Likely Benign
0
2
0
0
2
Benign
0
0
0
1
1
Total12610138

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

View in ClinVar →

Protein Context — Lollipop Plot

TMEM256-PLSCR3 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence

No publications found for TMEM256-PLSCR3

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools