Genopathy
Gene-Disorder Association · Article
Gene
BSCL2
BSCL2 Lipid Droplet Biogenesis Associated, Seipin
Disorder
Breast Cancer
Association Review

In brief

The association between BSCL2 (BSCL2 Lipid Droplet Biogenesis Associated, Seipin) and Breast Cancer is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 1
Symptoms 4
Compounds 0
Trials 0
Publications 0
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
BSCL2

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Breast Cancer

The disorder

23 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

1 clinical feature

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

1 clinical variant

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Provenance

References & sources

4 references

Every source and publication cited across this dossier, as one numbered reference list.

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