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NM_000626.4(CD79B):c.409G>A (p.Gly137Ser) AND Agammaglobulinemia 6, autosomal recessive

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 15, 2007
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000015925.26

Allele description [Variation Report for NM_000626.4(CD79B):c.409G>A (p.Gly137Ser)]

NM_000626.4(CD79B):c.409G>A (p.Gly137Ser)

Genes:
CD79B:CD79b molecule [Gene - OMIM - HGNC]
GH-LCR:growth hormone locus control region [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
17q23.3
Genomic location:
Preferred name:
NM_000626.4(CD79B):c.409G>A (p.Gly137Ser)
HGVS:
  • NC_000017.11:g.63930095C>T
  • NG_007368.1:g.7250G>A
  • NG_042788.1:g.13003C>T
  • NM_000626.4:c.409G>AMANE SELECT
  • NM_001039933.3:c.412G>A
  • NM_001329050.2:c.122-207G>A
  • NM_021602.4:c.119-207G>A
  • NP_000617.1:p.Gly137Ser
  • NP_001035022.1:p.Gly138Ser
  • LRG_43t1:c.412G>A
  • LRG_43:g.7250G>A
  • LRG_43p1:p.Gly138Ser
  • NC_000017.10:g.62007455C>T
Protein change:
G137S; GLY137SER
Links:
OMIM: 147245.0001; dbSNP: rs121912424
NCBI 1000 Genomes Browser:
rs121912424
Molecular consequence:
  • NM_001329050.2:c.122-207G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_021602.4:c.119-207G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000626.4:c.409G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001039933.3:c.412G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Agammaglobulinemia 6, autosomal recessive (AGM6)
Synonyms:
AGAMMAGLOBULINEMIA 6; AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79B DEFECT
Identifiers:
MONDO: MONDO:0012987; MedGen: C3150207; OMIM: 612692

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000036192OMIM
no assertion criteria provided
Pathogenic
(Aug 15, 2007) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Cutting edge: a hypomorphic mutation in Igbeta (CD79b) in a patient with immunodeficiency and a leaky defect in B cell development.

Dobbs AK, Yang T, Farmer D, Kager L, Parolini O, Conley ME.

J Immunol. 2007 Aug 15;179(4):2055-9.

PubMed [citation]
PMID:
17675462

Details of each submission

From OMIM, SCV000036192.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 15-year-old female patient of Georgian (South Caucasus) descent living in Austria who exhibited onset of infections under age 5 years, hypogammaglobulinemia, and less than 2% circulating CD19 (107265)-positive B cells (612692), Dobbs et al. (2007) identified a homozygous G-to-A transition in codon 137 in exon 3 of the CD79B gene. The mutation resulted in a gly137-to-ser (G137S) substitution adjacent to the cysteine required for the disulfide bond between CD79A (112205) and CD79B. The wildtype glycine at this site is conserved not only in CD79B from humans, mice, dogs, and cattle, but also in CD79A from these species. The patient's parents were heterozygous for the mutation, which was not present in 100 normal controls. Flow cytometric analysis demonstrated that the patient had a profound deficit in IgM-expressing B cells. Expression of the mutant protein in 293T cells or Jurkat T cells showed that it formed disulfide-linked complexes and brought IGHM to the cell surface inefficiently.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022