NM_000061.3(BTK):c.1574G>A (p.Arg525Gln) AND Autosomal recessive agammaglobulinemia 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 17, 2017
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:: RCV000581245.1

Allele description [Variation Report for NM_000061.3(BTK):c.1574G>A (p.Arg525Gln)]

NM_000061.3(BTK):c.1574G>A (p.Arg525Gln)

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.1574G>A (p.Arg525Gln)

HGVS:

NC_000023.11:g.101354687C>T
NG_009616.1:g.36538G>A
NM_000061.3:c.1574G>AMANE SELECT
NM_001287344.2:c.1676G>A
NM_001287345.2:c.1046G>A
NP_000052.1:p.Arg525Gln
NP_000052.1:p.Arg525Gln
NP_001274273.1:p.Arg559Gln
NP_001274274.1:p.Arg349Gln
LRG_128t1:c.1574G>A
LRG_128:g.36538G>A
LRG_128p1:p.Arg525Gln
NC_000023.10:g.100609675C>T
NM_000061.2:c.1574G>A
Q06187:p.Arg525Gln

Protein change:

R349Q; ARG525GLN

Links:

UniProtKB: Q06187#VAR_006255; OMIM: 300300.0001; dbSNP: rs128620183

NCBI 1000 Genomes Browser:

rs128620183

Molecular consequence:

NM_000061.3:c.1574G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001287344.2:c.1676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001287345.2:c.1046G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal recessive agammaglobulinemia 1 (AGM1)
Synonyms:: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGHM DEFECT; Agammaglobulinemia due to early proB cell defect; Agammaglobulinemia, autosomal recessive; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0020729; MedGen: C3152144; OMIM: 601495

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000692195	Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	no assertion criteria provided	Pathogenic (Feb 17, 2017)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000692195

Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

no assertion criteria provided

Pathogenic
(Feb 17, 2017)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital, SCV000692195.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Sep 29, 2024

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