TMPRSS7

Chr 3

transmembrane serine protease 7

NCBI Gene: 344805 ENSG00000176040 UniProt: Q7RTY8

The protein is a serine protease that preferentially cleaves peptides with arginine at the P1 position and is predicted to be active at the plasma membrane. This gene is not highly constrained against loss-of-function variants (pLI near 0, LOEUF >1). No established disease associations have been reported for TMPRSS7 mutations.

ResearchSummary from RefSeq, UniProt

Predicted to enable serine-type peptidase activity. Predicted to be involved in proteolysis. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2025]

ResearchGenerating clinical summary…

LOEUF 1.10

Clinical Summary— TMPRSS7

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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

120 VUS of 138 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?

1.10LOEUF

pLI 0.000

Z-score 1.07

OE 0.81 (0.61–1.10)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.40Z-score

OE missense 0.94 (0.86–1.03)

370 obs / 392.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.81 (0.61–1.10)

0≤0.351.4

Missense OE?0.94 (0.86–1.03)

0≤0.61.4

Synonymous OE?1.02

0≤1.21.6

LoF obs/exp: 31 / 38.1Missense obs/exp: 370 / 392.4Syn Z: -0.21

ClinVar Variant Classifications

138 submitted variants in ClinVar

ClinVar

Classification Summary

VUS120

Likely Benign6

120

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	120	0	120
Likely Benign	4	2	6
Benign	0	0	0
Total	124	2	126

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

View in ClinVar →

16 pathogenic / likely-pathogenic (of 17) ClinVar copy-number / structural variants overlap TMPRSS7 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →