NM_000061.3(BTK):c.1820C>A (p.Ala607Asp) 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:: RCV000012140.12

Allele description [Variation Report for NM_000061.3(BTK):c.1820C>A (p.Ala607Asp)]

NM_000061.3(BTK):c.1820C>A (p.Ala607Asp)

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.1820C>A (p.Ala607Asp)

HGVS:

NC_000023.11:g.101353282G>T
NG_009616.1:g.37943C>A
NG_011734.1:g.688C>A
NM_000061.3:c.1820C>AMANE SELECT
NM_001287344.2:c.1922C>A
NM_001287345.2:c.1292C>A
NP_000052.1:p.Ala607Asp
NP_001274273.1:p.Ala641Asp
NP_001274274.1:p.Ala431Asp
LRG_128:g.37943C>A
NC_000023.10:g.100608270G>T
Q06187:p.Ala607Asp

Protein change:

A431D; ALA607ASP

Links:

UniProtKB: Q06187#VAR_006271; OMIM: 300300.0046; dbSNP: rs128621208

NCBI 1000 Genomes Browser:

rs128621208

Molecular consequence:

NM_000061.3:c.1820C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001287344.2:c.1922C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001287345.2:c.1292C>A - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000032374	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 1994)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000032374

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 1994)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature 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, SCV000032374.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 2 patients with mild X-linked agammaglobulinemia (XLA; 300755), Bradley et al. (1994) identified a C-to-A transition at position 1952 of the BTK gene, resulting in a substitution of aspartic acid for alanine-607 near the 3-prime end of the gene.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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