NM_004360.5(CDH1):c.2524G>C (p.Ala842Pro) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 17, 2014
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:: RCV000167225.3

Allele description [Variation Report for NM_004360.5(CDH1):c.2524G>C (p.Ala842Pro)]

NM_004360.5(CDH1):c.2524G>C (p.Ala842Pro)

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.2524G>C (p.Ala842Pro)

HGVS:

NC_000016.10:g.68833374G>C
NG_008021.1:g.101083G>C
NM_001317184.2:c.2341G>C
NM_001317185.2:c.976G>C
NM_001317186.2:c.559G>C
NM_004360.5:c.2524G>CMANE SELECT
NP_001304113.1:p.Ala781Pro
NP_001304114.1:p.Ala326Pro
NP_001304115.1:p.Ala187Pro
NP_004351.1:p.Ala842Pro
LRG_301t1:c.2524G>C
LRG_301:g.101083G>C
NC_000016.9:g.68867277G>C
NM_004360.3:c.2524G>C
p.A842P

Protein change:

A187P

Links:

dbSNP: rs786203774

NCBI 1000 Genomes Browser:

rs786203774

Molecular consequence:

NM_001317184.2:c.2341G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001317185.2:c.976G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001317186.2:c.559G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004360.5:c.2524G>C - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000218062	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 17, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000218062

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 17, 2014)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000218062.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.A842P variant (also known as c.2524G>C), located in coding exon 16 of the CDH1 gene, results from a G to C substitution at nucleotide position 2524. The alanine at codon 842 is replaced by proline, an amino acid with highly similar 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 73000 alleles tested) in our clinical cohort. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of p.A842P remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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