NM_000061.3(BTK):c.1455C>A (p.Tyr485Ter) AND X-linked agammaglobulinemia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 18, 2011
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000029409.2

Allele description [Variation Report for NM_000061.3(BTK):c.1455C>A (p.Tyr485Ter)]

NM_000061.3(BTK):c.1455C>A (p.Tyr485Ter)

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.1455C>A (p.Tyr485Ter)

HGVS:

NC_000023.11:g.101356163G>T
NG_009616.1:g.35062C>A
NM_000061.3:c.1455C>AMANE SELECT
NM_001287344.2:c.1557C>A
NM_001287345.2:c.1039-1469C>A
NP_000052.1:p.Tyr485Ter
NP_000052.1:p.Tyr485Ter
NP_001274273.1:p.Tyr519Ter
LRG_128t1:c.1455C>A
LRG_128:g.35062C>A
LRG_128p1:p.Tyr485Ter
NC_000023.10:g.100611151G>T
NM_000061.2:c.1455C>A
p.Tyr485X

Protein change:

Y485*

Links:

dbSNP: rs193922124

NCBI 1000 Genomes Browser:

rs193922124

Molecular consequence:

NM_001287345.2:c.1039-1469C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000061.3:c.1455C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001287344.2:c.1557C>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

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
SCV000052057	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	pathogenic (Aug 18, 2011)	germline	curation, clinical testing	PubMed (2) [See all records that cite these PMIDs] 12405164, 11809909 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000052057

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

pathogenic
(Aug 18, 2011)

germline

curation, clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	1	not provided	not provided	1	not provided	curation

Citations

PubMed

XLA patients with BTK splice-site mutations produce low levels of wild-type BTK transcripts.

Noordzij JG, de Bruin-Versteeg S, Hartwig NG, Weemaes CM, Gerritsen EJ, Bernatowska E, van Lierde S, de Groot R, van Dongen JJ.

J Clin Immunol. 2002 Sep;22(5):306-18.

PubMed [citation]

PMID:: 12405164

Composition of precursor B-cell compartment in bone marrow from patients with X-linked agammaglobulinemia compared with healthy children.

Noordzij JG, de Bruin-Versteeg S, Comans-Bitter WM, Hartwig NG, Hendriks RW, de Groot R, van Dongen JJ.

Pediatr Res. 2002 Feb;51(2):159-68.

PubMed [citation]

PMID:: 11809909

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000052057.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	curation	PubMed (2)
2	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

"Male, 22 mo. old, diagnosed with XLA is heterozygous for the variant; the bone marrow (BM) of the patient is comprised mainly of precursor B Cells (see aFXN); unknown if detected in controls.": PubMed [ID: 11809909]

Description

Converted during submission to Pathogenic.

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

Last Updated: Apr 23, 2022

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