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NM_004360.5(CDH1):c.1566-15C>A AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 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:
RCV000484082.1

Allele description [Variation Report for NM_004360.5(CDH1):c.1566-15C>A]

NM_004360.5(CDH1):c.1566-15C>A

Gene:
CDH1:cadherin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
NM_004360.5(CDH1):c.1566-15C>A
HGVS:
  • NC_000016.10:g.68819265C>A
  • NG_008021.1:g.86974C>A
  • NM_001317184.2:c.1383-15C>A
  • NM_001317185.2:c.18-15C>A
  • NM_001317186.2:c.-254-2736C>A
  • NM_004360.5:c.1566-15C>AMANE SELECT
  • LRG_301t1:c.1566-15C>A
  • LRG_301:g.86974C>A
  • NC_000016.9:g.68853168C>A
  • NM_004360.3:c.1566-15C>A
  • NM_004360.4:c.1566-15C>A
Links:
dbSNP: rs1064794178
NCBI 1000 Genomes Browser:
rs1064794178
Molecular consequence:
  • NM_001317184.2:c.1383-15C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001317185.2:c.18-15C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001317186.2:c.-254-2736C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004360.5:c.1566-15C>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000568099GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jun 14, 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, SCV000568099.4

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

Description

This variant is denoted CDH1 c.1566-15C>A or IVS10-15C>A and consists of a C>A nucleotide substitution at the -15 position of intron 10 of the CDH1 gene. Multiple in silico models predict this variant to damage the nearby natural acceptor site, and to possibly cause abnormal gene splicing. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. The cytosine (C) nucleotide that is altered is not conserved across species. Based on currently available information, it is unclear whether CDH1 c.1566-15C>A is pathogenic or benign. We consider it to be a variant of uncertain significance.

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

Last Updated: Sep 29, 2024