U.S. flag

An official website of the United States government

NM_000061.3(BTK):c.1906G>T (p.Glu636Ter) AND X-linked agammaglobulinemia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 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:
RCV000012143.3

Allele description [Variation Report for NM_000061.3(BTK):c.1906G>T (p.Glu636Ter)]

NM_000061.3(BTK):c.1906G>T (p.Glu636Ter)

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.1906G>T (p.Glu636Ter)
HGVS:
  • NC_000023.11:g.101353196C>A
  • NG_009616.1:g.38029G>T
  • NG_011734.1:g.774G>T
  • NM_000061.3:c.1906G>TMANE SELECT
  • NM_001287344.2:c.2008G>T
  • NM_001287345.2:c.1378G>T
  • NP_000052.1:p.Glu636Ter
  • NP_001274273.1:p.Glu670Ter
  • NP_001274274.1:p.Glu460Ter
  • LRG_128:g.38029G>T
  • NC_000023.10:g.100608184C>A
Protein change:
E460*; GLU636TER
Links:
OMIM: 300300.0049; dbSNP: rs128622211
NCBI 1000 Genomes Browser:
rs128622211
Molecular consequence:
  • NM_000061.3:c.1906G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001287344.2:c.2008G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001287345.2:c.1378G>T - nonsense - [Sequence Ontology: SO:0001587]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000032377OMIM
no assertion criteria provided
Pathogenic
(Jan 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

Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis.

Bradley LA, Sweatman AK, Lovering RC, Jones AM, Morgan G, Levinsky RJ, Kinnon C.

Hum Mol Genet. 1994 Jan;3(1):79-83.

PubMed [citation]
PMID:
8162056

Details of each submission

From OMIM, SCV000032377.2

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

Description

In a patient with X-linked agammaglobulinemia (XLA; 300755), Bradley et al. (1994) identified a G-to-T transversion at nucleotide 2038 of the BTK gene, resulting in a stop codon at position 636 and a loss of the 24 terminal amino acids from the protein, including several highly conserved residues. As there are 3 affected boys in this family who have no detectable B-cells or immunoglobulin, it is likely that the last 24 amino acids of this protein are critical for its correct expression and/or function in B-cell development.

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

Last Updated: Apr 23, 2022