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NM_001332.4(CTNND2):c.709G>A (p.Ala237Thr) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 7, 2022
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:
RCV001267480.4

Allele description [Variation Report for NM_001332.4(CTNND2):c.709G>A (p.Ala237Thr)]

NM_001332.4(CTNND2):c.709G>A (p.Ala237Thr)

Gene:
CTNND2:catenin delta 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p15.2
Genomic location:
Preferred name:
NM_001332.4(CTNND2):c.709G>A (p.Ala237Thr)
HGVS:
  • NC_000005.10:g.11385133C>T
  • NG_023544.2:g.523866G>A
  • NM_001288715.1:c.436G>A
  • NM_001288716.1:c.167-20243G>A
  • NM_001288717.2:c.-123+11898G>A
  • NM_001332.4:c.709G>AMANE SELECT
  • NM_001364128.2:c.167-20243G>A
  • NP_001275644.1:p.Ala146Thr
  • NP_001323.1:p.Ala237Thr
  • NC_000005.9:g.11385245C>T
  • NG_023544.1:g.523866G>A
  • NM_001332.2:c.709G>A
Protein change:
A146T
Links:
dbSNP: rs1358615056
NCBI 1000 Genomes Browser:
rs1358615056
Molecular consequence:
  • NM_001288716.1:c.167-20243G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001288717.2:c.-123+11898G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364128.2:c.167-20243G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001288715.1:c.436G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001332.4:c.709G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001445661Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 7, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV001445661.4

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

Description

The c.709G>A (p.A237T) alteration is located in coding exon 7 of the CTNND2 gene. This alteration results from a G to A substitution at nucleotide position 709, causing the alanine (A) at amino acid position 237 to be replaced by a threonine (T). This allele was reported in one heterozygous individual in population-based cohorts in the Genome Aggregation Database (gnomAD); however, the CTNND2 c.709G>A alteration was flagged as a low confidence call in gnomAD. This amino acid position is well conserved in available vertebrate species. This missense alteration is located in a region that has a low rate of benign missense variation (Lek, 2016; Firth, 2009). This alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024