BCL7C

Chr 16

BAF chromatin remodeling complex subunit BCL7C

Also known as: SMARCJ3

NCBI Gene: 9274 ENSG00000099385 UniProt: Q8WUZ0

The BCL7C protein may have anti-apoptotic functions, though its precise cellular role remains unclear. Mutations in BCL7C cause neurodevelopmental disorders with intellectual disability and developmental delay. BCL7C follows autosomal recessive inheritance and is not highly constrained against loss-of-function variants.

ResearchSummary from RefSeq, UniProt

This gene is identified by the similarity of its product to the N-terminal region of BCL7A protein. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. The function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

ResearchGenerating clinical summary…

LOEUF 0.72

Clinical Summary— BCL7C

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.32) despite low pLI — interpret in context.

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ClinVar Variants

29 VUS of 38 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?

0.72LOEUF

pLI 0.080

Z-score 2.26

OE 0.32 (0.15–0.72)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.98Z-score

OE missense 0.77 (0.66–0.90)

111 obs / 144.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.32 (0.15–0.72)

0≤0.351.4

Missense OE?0.77 (0.66–0.90)

0≤0.61.4

Synonymous OE?0.87

0≤1.21.6

LoF obs/exp: 4 / 12.7Missense obs/exp: 111 / 144.0Syn Z: 0.78

ClinVar Variant Classifications

38 submitted variants in ClinVar

ClinVar

Classification Summary

VUS29

Likely Benign1

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	29	29
Likely Benign	1	1
Benign	0	0
Total	30	30

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

View in ClinVar →

11 pathogenic / likely-pathogenic (of 20) ClinVar copy-number / structural variants overlap BCL7C — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →