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NM_004360.5(CDH1):c.1590dup (p.Asn531fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 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:
RCV000520434.2

Allele description [Variation Report for NM_004360.5(CDH1):c.1590dup (p.Asn531fs)]

NM_004360.5(CDH1):c.1590dup (p.Asn531fs)

Gene:
CDH1:cadherin 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
NM_004360.5(CDH1):c.1590dup (p.Asn531fs)
HGVS:
  • NC_000016.10:g.68819304dup
  • NG_008021.1:g.87013dup
  • NM_001317184.2:c.1407dup
  • NM_001317185.2:c.42dup
  • NM_001317186.2:c.-254-2697dup
  • NM_004360.5:c.1590dupMANE SELECT
  • NP_001304113.1:p.Asn470fs
  • NP_001304114.1:p.Asn15fs
  • NP_004351.1:p.Asn531fs
  • LRG_301t1:c.1590dup
  • LRG_301:g.87013dup
  • NC_000016.9:g.68853205_68853206insC
  • NC_000016.9:g.68853207dup
  • NM_004360.3:c.1590dupC
  • NM_004360.5(CDH1):c.1590dupMANE SELECT
  • p.Asn531fs
Protein change:
N15fs
Links:
OMIM: 192090.0014; dbSNP: rs1555516535
NCBI 1000 Genomes Browser:
rs1555516535
Molecular consequence:
  • NM_001317184.2:c.1407dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001317185.2:c.42dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004360.5:c.1590dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001317186.2:c.-254-2697dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000617357GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Mar 1, 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, SCV000617357.1

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

Description

This duplication of one nucleotide in CDH1 is denoted c.1590dupC at the cDNA level and p.Asn531GlnfsX6 (N531QfsX6) at the protein level. The normal sequence, with the base that is duplicated in brackets, is CTGC[dupC]AACT. The duplication causes a frameshift which changes an Asparagine to a Glutamine at codon 531, and creates a premature stop codon at position 6 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. CDH1 c.1590dupC, also known as 1588insC using alternate nomenclature, has been reported in a Hereditary Diffuse Gastric Cancer family (Guilford 1999). We consider this variant to be pathogenic.

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

Last Updated: Feb 25, 2025