CD79B

Chr 17AR

CD79b molecule

Also known as: AGM6, B29, IGB, Igbeta

The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-beta protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Primary Disease Associations & Inheritance

Agammaglobulinemia 6MIM #612692
AR
2
Active trials
206
ClinVar variants
14
Pathogenic / LP
1.3
Missense Z
0.38
LOEUF
11
Pubs (2 yr)
Clinical SummaryCD79B
🧬
Gene-Disease Validity (ClinGen)
agammaglobulinemia 6, autosomal recessive · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.92). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
14 Pathogenic / Likely Pathogenic· 65 VUS of 206 total submissions
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Clinical Trials
2 active or recruiting trials — potential therapeutic options may be available
Some data sources returned errors (1)

ensembl: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.38LOEUF
pLI 0.916
Z-score 2.99
OE 0.08 (0.030.38)
Highly constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.31Z-score
OE missense 0.68 (0.580.81)
93 obs / 136.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.08 (0.030.38)
00.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.68 (0.580.81)
00.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.02
01.21.6
LoF obs/exp: 1 / 12.4Missense obs/exp: 93 / 136.1Syn Z: -0.11

ClinVar Variant Classifications

206 submitted variants in ClinVar

Classification Summary

Pathogenic12
Likely Pathogenic2
VUS65
Likely Benign108
Benign15
Conflicting4
12
Pathogenic
2
Likely Pathogenic
65
VUS
108
Likely Benign
15
Benign
4
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
1
11
0
12
Likely Pathogenic
1
1
0
0
2
VUS
0
55
9
1
65
Likely Benign
1
1
49
57
108
Benign
0
0
12
3
15
Conflicting
4
Total2588161206

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

View in ClinVar →

Protein Context — Lollipop Plot

CD79B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

CD79B ANTIGEN; CD79B
MIM #147245 · *

Agammaglobulinemia 6

MIM #612692

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
CD79B MYD88 B , 1
Zhong GC et al.·Zhonghua Xue Ye Xue Za Zhi
2023
Top 9 full-text resultsSearch PubTator3 ↗