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NM_000061.3(BTK):c.863G>A (p.Arg288Gln) AND Autosomal recessive agammaglobulinemia 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 3, 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:
RCV000584540.1

Allele description [Variation Report for NM_000061.3(BTK):c.863G>A (p.Arg288Gln)]

NM_000061.3(BTK):c.863G>A (p.Arg288Gln)

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.863G>A (p.Arg288Gln)
HGVS:
  • NC_000023.11:g.101359324C>T
  • NG_009616.1:g.31901G>A
  • NM_000061.3:c.863G>AMANE SELECT
  • NM_001287344.2:c.965G>A
  • NM_001287345.2:c.863G>A
  • NP_000052.1:p.Arg288Gln
  • NP_000052.1:p.Arg288Gln
  • NP_001274273.1:p.Arg322Gln
  • NP_001274274.1:p.Arg288Gln
  • LRG_128t1:c.863G>A
  • LRG_128:g.31901G>A
  • LRG_128p1:p.Arg288Gln
  • NC_000023.10:g.100614312C>T
  • NM_000061.2:c.863G>A
Protein change:
R288Q
Links:
dbSNP: rs1555978277
NCBI 1000 Genomes Browser:
rs1555978277
Molecular consequence:
  • NM_000061.3:c.863G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287344.2:c.965G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287345.2:c.863G>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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000692189Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
no assertion criteria provided
Pathogenic
(Mar 3, 2010) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital, SCV000692189.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024