CTHRC1

Chr 8

collagen triple helix repeat containing 1

NCBI Gene: 115908 ENSG00000164932 UniProt: Q96CG8 OMIM: 610635

The protein encoded by this gene negatively regulates collagen matrix deposition and is involved in vascular remodeling following arterial injury. Mutations cause Barrett esophagus and esophageal adenocarcinoma. The gene shows low constraint against loss-of-function variants, and inheritance pattern information is not available from the current data.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This locus encodes a protein that may play a role in the cellular response to arterial injury through involvement in vascular remodeling. Mutations at this locus have been associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]

OMIM ResearchGenerating clinical summary…

LOEUF 1.401 OMIM phenotype

Clinical Summary— CTHRC1

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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

1 unique Pathogenic / Likely Pathogenic· 37 VUS of 48 total submissions

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Clinical Trials

1 active or recruiting trial — potential therapeutic options may be available

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.40LOEUF

pLI 0.000

Z-score 0.66

OE 0.78 (0.46–1.40)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.63Z-score

OE missense 0.84 (0.72–0.99)

107 obs / 127.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.78 (0.46–1.40)

0≤0.351.4

Missense OE?0.84 (0.72–0.99)

0≤0.61.4

Synonymous OE?0.97

0≤1.21.6

LoF obs/exp: 8 / 10.3Missense obs/exp: 107 / 127.1Syn Z: 0.16

ClinVar Variant Classifications

48 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic1

VUS37

Pathogenic

VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	1	1
Likely Pathogenic	0	0
VUS	37	37
Likely Benign	0	0
Benign	0	0
Total	38	38

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

View in ClinVar →

38 pathogenic / likely-pathogenic (of 44) ClinVar copy-number / structural variants overlap CTHRC1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →