GPC5-IT1

Chr 13

GPC5 intronic transcript 1

I cannot provide a clinical summary for GPC5-IT1 as no information about protein function, associated diseases, or inheritance patterns was provided in the data. This appears to be an intervening transcript (based on the "-IT1" suffix), which typically indicates a non-coding RNA rather than a protein-coding gene.

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

—

Mechanism

Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in GPC5-IT1?

gnomAD v4 · ~76k individuals · PASS only

Rare means allele frequency under

Rare missense

none observed

0 rare PASS variants

Rare truncating (LoF)

1 in 19,000

1 rare PASS variants

Rare synonymous (reference)

none observed

0 rare PASS variants

Rare missense and truncating variants are carried at similar rates in GPC5-IT1; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 1 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
Admixed American	~7,621	none seen	≈ 1 in 1,900

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.