NM_000061.3(BTK):c.1630_1631+3delinsGAAA AND Autosomal recessive agammaglobulinemia 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 27, 2010
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:: RCV000584147.1

Allele description [Variation Report for NM_000061.3(BTK):c.1630_1631+3delinsGAAA]

NM_000061.3(BTK):c.1630_1631+3delinsGAAA

Gene:

BTK:Bruton tyrosine kinase [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

Xq22.1

Genomic location:

Preferred name:

NM_000061.3(BTK):c.1630_1631+3delinsGAAA

HGVS:

NC_000023.11:g.101354627_101354631delinsTTTC
NG_009616.1:g.36594_36598delinsGAAA
NM_000061.3:c.1630_1631+3delinsGAAAMANE SELECT
NM_001287344.2:c.1732_1733+3delinsGAAA
NM_001287345.2:c.1102_1103+3delinsGAAA
LRG_128t1:c.1630_1631+3delinsGAAA
LRG_128:g.36594_36598delinsGAAA
NC_000023.10:g.100609615_100609619delinsTTTC
NM_000061.2:c.1630_1631+3delinsGAAA

Links:

dbSNP: rs1555977580

NCBI 1000 Genomes Browser:

rs1555977580

Molecular consequence:

NM_000061.3:c.1630_1631+3delinsGAAA - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001287344.2:c.1732_1733+3delinsGAAA - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001287345.2:c.1102_1103+3delinsGAAA - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000692197	Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	no assertion criteria provided	Pathogenic (Feb 27, 2010)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000692197

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

no assertion criteria provided

Pathogenic
(Feb 27, 2010)

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, SCV000692197.1

#	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: Apr 23, 2022

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