CORO7-PAM16

Chr 16

CORO7-PAM16 readthrough

This gene encodes a fusion protein that combines sequences from coronin 7 (involved in actin cytoskeleton regulation) and PAM16 (a component of the mitochondrial protein import machinery). The gene is extremely intolerant to loss-of-function variants (pLI near 1.0), but associated diseases and inheritance patterns have not been established. Clinical significance of variants in this read-through transcript remains unclear.

ResearchSummary from RefSeq

This locus represents naturally occurring read-through transcription between the neighboring CORO7 (coronin 7) and PAM16 (presequence translocase-associated motor 16) genes on chromosome 16. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Jan 2011]

ResearchGenerating clinical summary…

LOEUF 0.94

Clinical Summary— CORO7-PAM16

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

2 unique Pathogenic / Likely Pathogenic· 190 VUS of 273 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.94LOEUF

pLI 0.000

Z-score 1.96

OE 0.74 (0.58–0.94)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

-0.40Z-score

OE missense 1.04 (0.98–1.11)

687 obs / 657.8 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.74 (0.58–0.94)

0≤0.351.4

Missense OE?1.04 (0.98–1.11)

0≤0.61.4

Synonymous OE?1.08

0≤1.21.6

LoF obs/exp: 47 / 63.9Missense obs/exp: 687 / 657.8Syn Z: -1.06

ClinVar Variant Classifications

273 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic2

VUS190

Likely Benign56

Benign22

Pathogenic

190

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	2	0	0	2
Likely Pathogenic	0	0	0	0
VUS	187	3	0	190
Likely Benign	13	28	15	56
Benign	4	16	2	22
Total	206	47	17	270

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

View in ClinVar →

33 pathogenic / likely-pathogenic (of 44) ClinVar copy-number / structural variants overlap CORO7-PAM16 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →