U.S. flag

An official website of the United States government

NM_004360.5(CDH1):c.2560_2563del (p.Asp854fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 26, 2020
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:
RCV002433387.2

Allele description [Variation Report for NM_004360.5(CDH1):c.2560_2563del (p.Asp854fs)]

NM_004360.5(CDH1):c.2560_2563del (p.Asp854fs)

Gene:
CDH1:cadherin 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
NM_004360.5(CDH1):c.2560_2563del (p.Asp854fs)
HGVS:
  • NC_000016.10:g.68833410_68833413del
  • NG_008021.1:g.101119_101122del
  • NM_001317184.2:c.2377_2380del
  • NM_001317185.2:c.1012_1015del
  • NM_001317186.2:c.595_598del
  • NM_004360.5:c.2560_2563delMANE SELECT
  • NP_001304113.1:p.Asp793fs
  • NP_001304114.1:p.Asp338fs
  • NP_001304115.1:p.Asp199fs
  • NP_004351.1:p.Asp854Lysfs
  • NP_004351.1:p.Asp854fs
  • LRG_301t1:c.2560_2563del
  • LRG_301:g.101119_101122del
  • LRG_301p1:p.Asp854Lysfs
  • NC_000016.9:g.68867313_68867316del
  • NM_004360.3:c.2560_2563delGACA
Protein change:
D199fs
Molecular consequence:
  • NM_001317184.2:c.2377_2380del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001317185.2:c.1012_1015del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001317186.2:c.595_598del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004360.5:c.2560_2563del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV002741168Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 26, 2020) 		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, SCV002741168.2

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

Description

The c.2560_2563delGACA variant, located in coding exon 16 of the CDH1 gene, results from a deletion of 4 nucleotides at positions 2560 to 2563 causing a translational frameshift with a predicted alternate stop codon (p.D854Kfs*8). Frameshifts are typically deleterious in nature, however, this frameshift occurs at the 3' terminus of CDH1, is not expected to trigger nonsense-mediated mRNA decay, and impacts only the last 30 amino acids of the protein. The exact functional impact of these altered amino acids is unknown at this time. Since supporting evidence is limited at this time, 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