ZNF670-ZNF695

Chr 1

ZNF670-ZNF695 readthrough (NMD candidate)

This locus represents a read-through transcript between two neighboring zinc finger genes that is likely degraded by nonsense-mediated decay and does not produce a functional protein product. The gene shows very low constraint against loss-of-function variants (pLI = 0.0003, LOEUF = 1.83), indicating that disruption is well-tolerated in the population. No established disease associations have been reported for this transcript.

ResearchSummary from RefSeq

This locus represents naturally occurring read-through transcription between the neighboring zinc finger protein 670 (ZNF670) and zinc finger protein 695 (ZNF695) genes on chromosome 1. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011]

ResearchGenerating clinical summary…

LOEUF 1.83

Clinical Summary— ZNF670-ZNF695

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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

132 VUS of 139 total submissions

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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.83LOEUF

pLI 0.000

Z-score -0.08

OE 1.04 (0.53–1.83)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.46Z-score

OE missense 1.09 (0.98–1.22)

221 obs / 202.4 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.04 (0.53–1.83)

0≤0.351.4

Missense OE?1.09 (0.98–1.22)

0≤0.61.4

Synonymous OE?0.76

0≤1.21.6

LoF obs/exp: 5 / 4.8Missense obs/exp: 221 / 202.4Syn Z: 1.60

ClinVar Variant Classifications

139 submitted variants in ClinVar

ClinVar

Classification Summary

VUS132

Likely Benign4

132

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	132	132
Likely Benign	4	4
Benign	0	0
Total	136	136

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

View in ClinVar →

35 pathogenic / likely-pathogenic (of 39) ClinVar copy-number / structural variants overlap ZNF670-ZNF695 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →