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NM_000061.3(BTK):c.1823A>G (p.Glu608Gly) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 18, 2016
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:
RCV000437470.1

Allele description [Variation Report for NM_000061.3(BTK):c.1823A>G (p.Glu608Gly)]

NM_000061.3(BTK):c.1823A>G (p.Glu608Gly)

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.1823A>G (p.Glu608Gly)
HGVS:
  • NC_000023.11:g.101353279T>C
  • NG_009616.1:g.37946A>G
  • NG_011734.1:g.691A>G
  • NM_000061.3:c.1823A>GMANE SELECT
  • NM_001287344.2:c.1925A>G
  • NM_001287345.2:c.1295A>G
  • NP_000052.1:p.Glu608Gly
  • NP_000052.1:p.Glu608Gly
  • NP_001274273.1:p.Glu642Gly
  • NP_001274274.1:p.Glu432Gly
  • LRG_128t1:c.1823A>G
  • LRG_128:g.37946A>G
  • LRG_128p1:p.Glu608Gly
  • NC_000023.10:g.100608267T>C
  • NM_000061.2:c.1823A>G
Protein change:
E432G
Links:
dbSNP: rs781930404
NCBI 1000 Genomes Browser:
rs781930404
Molecular consequence:
  • NM_000061.3:c.1823A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287344.2:c.1925A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287345.2:c.1295A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000524789GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Feb 18, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000524789.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The E608G variant in the BTK gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The E608G variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The E608G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where amino acids with similar properties to Glutamic Acid are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Missense variants in nearby residues (E605G, T606P, A607D, I610F, Q612P, G613D, G613A) have been reported in the Human Gene Mutation Database in association with agammaglobulinemia (Stenson et al., 2014), supporting the functional importance of this region of the protein. We interpret E608G as a variant of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022