U.S. flag

An official website of the United States government

NM_004360.5(CDH1):c.1569T>A (p.Tyr523Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 10, 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:
RCV000561178.4

Allele description [Variation Report for NM_004360.5(CDH1):c.1569T>A (p.Tyr523Ter)]

NM_004360.5(CDH1):c.1569T>A (p.Tyr523Ter)

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.1569T>A (p.Tyr523Ter)
HGVS:
  • NC_000016.10:g.68819283T>A
  • NG_008021.1:g.86992T>A
  • NM_001317184.2:c.1386T>A
  • NM_001317185.2:c.21T>A
  • NM_001317186.2:c.-254-2718T>A
  • NM_004360.5:c.1569T>AMANE SELECT
  • NP_001304113.1:p.Tyr462Ter
  • NP_001304114.1:p.Tyr7Ter
  • NP_004351.1:p.Tyr523Ter
  • LRG_301t1:c.1569T>A
  • LRG_301:g.86992T>A
  • NC_000016.9:g.68853186T>A
  • NC_000016.9:g.68853186T>A
  • NM_004360.3:c.1569T>A
  • NM_004360.5(CDH1):c.1569T>AMANE SELECT
  • p.Tyr523Ter
Protein change:
Y462*
Links:
dbSNP: rs876659716
NCBI 1000 Genomes Browser:
rs876659716
Molecular consequence:
  • NM_001317186.2:c.-254-2718T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001317184.2:c.1386T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001317185.2:c.21T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004360.5:c.1569T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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
SCV000661672Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Feb 10, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000661672.5

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

Description

The p.Y523* pathogenic mutation (also known as c.1569T>A), located in coding exon 11 of the CDH1 gene, results from a T to A substitution at nucleotide position 1569. This changes the amino acid from a tyrosine to a stop codon within coding exon 11. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Sep 29, 2024