U.S. flag

An official website of the United States government

NM_000061.3(BTK):c.1771del (p.Tyr591fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 16, 2017
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:
RCV000498434.1

Allele description [Variation Report for NM_000061.3(BTK):c.1771del (p.Tyr591fs)]

NM_000061.3(BTK):c.1771del (p.Tyr591fs)

Gene:
BTK:Bruton tyrosine kinase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq22.1
Genomic location:
Preferred name:
NM_000061.3(BTK):c.1771del (p.Tyr591fs)
HGVS:
  • NC_000023.11:g.101353333del
  • NG_009616.1:g.37894del
  • NG_011734.1:g.639del
  • NM_000061.3:c.1771delMANE SELECT
  • NM_001287344.2:c.1873del
  • NM_001287345.2:c.1243del
  • NP_000052.1:p.Tyr591fs
  • NP_001274273.1:p.Tyr625fs
  • NP_001274274.1:p.Tyr415fs
  • LRG_128:g.37894del
  • NC_000023.10:g.100608321del
  • NM_000061.2:c.1771delT
Protein change:
Y415fs
Links:
dbSNP: rs1555977341
NCBI 1000 Genomes Browser:
rs1555977341
Molecular consequence:
  • NM_000061.3:c.1771del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001287344.2:c.1873del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001287345.2:c.1243del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000589994GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(May 16, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000589994.3

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

Description

The c.1771delT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1771delT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.1771delT variant in the BTK gene causes a frameshift starting with codon Tyrosine 591, changes this amino acid to a Threonine residue and creates a premature Stop codon at position 58 of the new reading frame, denoted p.Tyr591ThrfsX58. This variant is predicted to cause loss of normal protein function through protein truncation. Specifically, it is predicted that the last 69 correct amino acids will be lost and replaced with 57 incorrect amino acids. In summary, this variant is likely pathogenic.

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

Last Updated: Apr 23, 2022