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NM_000061.3(BTK):c.919A>G (p.Arg307Gly) 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:
RCV000012120.3

Allele description [Variation Report for NM_000061.3(BTK):c.919A>G (p.Arg307Gly)]

NM_000061.3(BTK):c.919A>G (p.Arg307Gly)

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.919A>G (p.Arg307Gly)
HGVS:
  • NC_000023.11:g.101358672T>C
  • NG_009616.1:g.32553A>G
  • NM_000061.3:c.919A>GMANE SELECT
  • NM_001287344.2:c.1021A>G
  • NM_001287345.2:c.919A>G
  • NP_000052.1:p.Arg307Gly
  • NP_001274273.1:p.Arg341Gly
  • NP_001274274.1:p.Arg307Gly
  • LRG_128:g.32553A>G
  • NC_000023.10:g.100613660T>C
  • Q06187:p.Arg307Gly
Protein change:
R307G; ARG307GLY
Links:
UniProtKB: Q06187#VAR_006231; OMIM: 300300.0026; dbSNP: rs128621195
NCBI 1000 Genomes Browser:
rs128621195
Molecular consequence:
  • NM_000061.3:c.919A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287344.2:c.1021A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287345.2:c.919A>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
SCV000032354OMIM
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, SCV000032354.2

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

Description

In a patient with severe X-linked agammaglobulinemia (XLA; 300755), Bradley et al. (1994) identified an A-to-G transition at position 1051 of the BTK gene, resulting in a substitution of glycine for arginine-307. This mutation was found in the SH2-like domain where arg307 is involved in the binding interactions at the base of the phosphotyrosine binding pocket. The change to a neutral glycine residue is highly likely to disrupt the binding potential of this region. This patient has less than 1% B cells and undetectable immunoglobulin levels, indicating that the replacement of this highly conserved arginine residue completely abolishes the functioning of Btk.

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

Last Updated: Apr 23, 2022