NM_001792.5(CDH2):c.2027A>G (p.Tyr676Cys) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 11, 2022
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:: RCV002462248.1

Allele description [Variation Report for NM_001792.5(CDH2):c.2027A>G (p.Tyr676Cys)]

NM_001792.5(CDH2):c.2027A>G (p.Tyr676Cys)

Gene:

CDH2:cadherin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q12.1

Genomic location:

Preferred name:

NM_001792.5(CDH2):c.2027A>G (p.Tyr676Cys)

HGVS:

NC_000018.10:g.27985182T>C
NG_011959.1:g.197300A>G
NM_001308176.2:c.1934A>G
NM_001792.5:c.2027A>GMANE SELECT
NP_001295105.1:p.Tyr645Cys
NP_001783.2:p.Tyr676Cys
NC_000018.9:g.25565146T>C
NM_001792.3:c.2027A>G
NM_001792.4:c.2027A>G
p.Tyr676Cys

Protein change:

Y645C; TYR676CYS

Links:

OMIM: 114020.0005; dbSNP: rs199984052

NCBI 1000 Genomes Browser:

rs199984052

Molecular consequence:

NM_001308176.2:c.1934A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001792.5:c.2027A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002757009	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Nov 11, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002757009

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Nov 11, 2022)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV002757009.1

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

Description

Published functional studies demonstrate a damaging effect on self- and trans-cell aggregation (Accogli et al., 2019); Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in at least one heterozygous clinically unaffected adult relative of an individual referred for genetic testing at GeneDx; This variant is associated with the following publications: (PMID: 31585109)

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

Last Updated: May 19, 2024

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