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NM_004360.5(CDH1):c.269_270delinsCA (p.Arg90Pro) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 11, 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:
RCV000571292.3

Allele description [Variation Report for NM_004360.5(CDH1):c.269_270delinsCA (p.Arg90Pro)]

NM_004360.5(CDH1):c.269_270delinsCA (p.Arg90Pro)

Gene:
CDH1:cadherin 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
NM_004360.5(CDH1):c.269_270delinsCA (p.Arg90Pro)
HGVS:
  • NC_000016.10:g.68801775_68801776delinsCA
  • NG_008021.1:g.69484_69485delinsCA
  • NM_001317184.2:c.269_270delinsCA
  • NM_001317185.2:c.-1347_-1346delinsCA
  • NM_001317186.2:c.-1551_-1550delinsCA
  • NM_004360.5:c.269_270delinsCAMANE SELECT
  • NP_001304113.1:p.Arg90Pro
  • NP_004351.1:p.Arg90Pro
  • LRG_301t1:c.269_270delGGinsCA
  • LRG_301:g.69484_69485delinsCA
  • NC_000016.9:g.68835678_68835679delinsCA
  • NM_004360.3:c.269_270delGGinsCA
Protein change:
R90P
Links:
dbSNP: rs1555514433
NCBI 1000 Genomes Browser:
rs1555514433
Molecular consequence:
  • NM_001317185.2:c.-1347_-1346delinsCA - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317186.2:c.-1551_-1550delinsCA - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317184.2:c.269_270delinsCA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004360.5:c.269_270delinsCA - missense variant - [Sequence Ontology: SO:0001583]

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000673174Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 11, 2016) 		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, SCV000673174.5

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

Description

The c.269_270delGGinsCA variant (also known as p.R90P), located in coding exon 3 of the CDH1 gene, results from a deletion of GG and insertion of CA at nucleotide positions 269 and 270. This causes the substitution of the arginine residue at codon 90 for a proline, an amino acid with dissimilar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6498 samples (12996 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 175000 alleles tested) in our clinical cohort. This amino acid position is poorly conserved in available vertebrate species. 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