TMEM256-PLSCR3

Chr 17

TMEM256-PLSCR3 readthrough (NMD candidate)

Also known as: C17orf61-PLSCR3

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]

Research

ResearchGenerating clinical summary…

Clinical Summary— TMEM256-PLSCR3

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ClinVar Variants

1 unique Pathogenic / Likely Pathogenic· 24 VUS of 30 total submissions

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Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

30 submitted variants in ClinVar

ClinVar

Classification Summary

Likely Pathogenic1

VUS24

Likely Benign2

Benign1

Likely Pathogenic

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	1	0	0	1
VUS	0	24	0	24
Likely Benign	0	2	0	2
Benign	0	0	1	1
Total	1	26	1	28

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

View in ClinVar →

9 pathogenic / likely-pathogenic (of 10) ClinVar copy-number / structural variants overlap TMEM256-PLSCR3 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →