U.S. flag

An official website of the United States government

NM_001332.4(CTNND2):c.748del (p.Ala250fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 28, 2019
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:
RCV001008606.1

Allele description [Variation Report for NM_001332.4(CTNND2):c.748del (p.Ala250fs)]

NM_001332.4(CTNND2):c.748del (p.Ala250fs)

Gene:
CTNND2:catenin delta 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5p15.2
Genomic location:
Preferred name:
NM_001332.4(CTNND2):c.748del (p.Ala250fs)
HGVS:
  • NC_000005.10:g.11385094del
  • NG_023544.2:g.523905del
  • NM_001288715.1:c.475del
  • NM_001288716.1:c.167-20204del
  • NM_001288717.2:c.-123+11937del
  • NM_001332.4:c.748delMANE SELECT
  • NM_001364128.2:c.167-20204del
  • NP_001275644.1:p.Ala159fs
  • NP_001323.1:p.Ala250fs
  • NC_000005.9:g.11385206del
  • NM_001332.2:c.748delG
Protein change:
A159fs
Links:
dbSNP: rs1581078962
NCBI 1000 Genomes Browser:
rs1581078962
Molecular consequence:
  • NM_001288715.1:c.475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001332.4:c.748del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001288716.1:c.167-20204del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001288717.2:c.-123+11937del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364128.2:c.167-20204del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001168379GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Feb 28, 2019) 		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, SCV001168379.1

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

Description

A variant that is likely pathogenic has been identified in the CTNND2 gene. The c.748delG variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.748delG variant in the CTNND2 gene causes a frameshift starting with codon Alanine 250, changes this amino acid to a Proline residue and creates a premature Stop codon at position 82 of the new reading frame, denoted p.Ala250ProfsX82. This frameshift variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.748delG variant is not observed in large population cohorts (Lek et al., 2016). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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

Last Updated: Apr 23, 2022