U.S. flag

An official website of the United States government

NM_001904.4(CTNNB1):c.841A>T (p.Lys281Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 30, 2015
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:
RCV000422243.1

Allele description [Variation Report for NM_001904.4(CTNNB1):c.841A>T (p.Lys281Ter)]

NM_001904.4(CTNNB1):c.841A>T (p.Lys281Ter)

Gene:
CTNNB1:catenin beta 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.1
Genomic location:
Preferred name:
NM_001904.4(CTNNB1):c.841A>T (p.Lys281Ter)
HGVS:
  • NC_000003.12:g.41225766A>T
  • NG_013302.2:g.31316A>T
  • NM_001098209.2:c.841A>T
  • NM_001098210.2:c.841A>T
  • NM_001330729.2:c.820A>T
  • NM_001904.4:c.841A>TMANE SELECT
  • NP_001091679.1:p.Lys281Ter
  • NP_001091680.1:p.Lys281Ter
  • NP_001317658.1:p.Lys274Ter
  • NP_001895.1:p.Lys281Ter
  • LRG_1108t1:c.841A>T
  • LRG_1108:g.31316A>T
  • LRG_1108p1:p.Lys281Ter
  • NC_000003.11:g.41267257A>T
  • NM_001904.3:c.841A>T
Protein change:
K274*
Links:
dbSNP: rs1057520556
NCBI 1000 Genomes Browser:
rs1057520556
Molecular consequence:
  • NM_001098209.2:c.841A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001098210.2:c.841A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001330729.2:c.820A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001904.4:c.841A>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000516017GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Mar 30, 2015) 		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, SCV000516017.4

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

Description

The K281X variant in the CTNNB1 gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. This variant is predicted to cause loss ofnormal protein function either through protein truncation or nonsense-mediated mRNA decay. TheK281X variant was not observed in approximately 6,500 individuals of European and AfricanAmerican ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benignvariant in these populations. We interpret K281X as a pathogenic variant.

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

Last Updated: Apr 23, 2022