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NM_000061.3(BTK):c.1766A>G (p.Glu589Gly) AND X-linked agammaglobulinemia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 1994
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:
RCV000012138.3

Allele description [Variation Report for NM_000061.3(BTK):c.1766A>G (p.Glu589Gly)]

NM_000061.3(BTK):c.1766A>G (p.Glu589Gly)

Gene:
BTK:Bruton tyrosine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq22.1
Genomic location:
Preferred name:
NM_000061.3(BTK):c.1766A>G (p.Glu589Gly)
HGVS:
  • NC_000023.11:g.101353336T>C
  • NG_009616.1:g.37889A>G
  • NG_011734.1:g.634A>G
  • NM_000061.3:c.1766A>GMANE SELECT
  • NM_001287344.2:c.1868A>G
  • NM_001287345.2:c.1238A>G
  • NP_000052.1:p.Glu589Gly
  • NP_001274273.1:p.Glu623Gly
  • NP_001274274.1:p.Glu413Gly
  • LRG_128:g.37889A>G
  • NC_000023.10:g.100608324T>C
  • Q06187:p.Glu589Gly
Protein change:
E413G; GLU589GLY
Links:
UniProtKB: Q06187#VAR_006265; OMIM: 300300.0044; dbSNP: rs128621206
NCBI 1000 Genomes Browser:
rs128621206
Molecular consequence:
  • NM_000061.3:c.1766A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287344.2:c.1868A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287345.2:c.1238A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
X-linked agammaglobulinemia (XLA)
Synonyms:
IMMUNODEFICIENCY 1; Bruton's agammaglobulinemia; AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010421; MedGen: C0221026; Orphanet: 229717; Orphanet: 47; OMIM: 300755

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000032372OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 1994) 		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

Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families.

Zhu Q, Zhang M, Winkelstein J, Chen SH, Ochs HD.

Hum Mol Genet. 1994 Oct;3(10):1899-900. No abstract available.

PubMed [citation]
PMID:
7849721

Details of each submission

From OMIM, SCV000032372.2

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

Description

In 3 patients with moderate X-linked agammaglobulinemia (XLA; 300755), Zhu et al. (1994) identified an A-to-G transition at position 1898 in the BTK gene, resulting in a substitution of glycine for glutamic acid-589. This mutation was found in the SH1 domain.

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

Last Updated: Apr 23, 2022