NM_001792.5(CDH2):c.2027A>G (p.Tyr676Cys) AND Syndromic neurodevelopmental disorder

Germline classification:: Likely pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001261829.1

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)

Name:: Syndromic neurodevelopmental disorder
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001439158	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Likely pathogenic	de novo	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001439158

University of Washington Center for Mendelian Genomics, University of Washington

no assertion criteria provided

Likely pathogenic

de novo

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.

Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, Azzarello-Burri S, Rauch A, Krier J, Fieg E, Pallais JC; Undiagnosed Diseases Network., McConkie-Rosell A, McDonald M, Freedman SF, Rivière JB, Lafond-Lapalme J, Simpson BN, Hopkin RJ, Trimouille A, Van-Gils J, Begtrup A, et al.

Am J Hum Genet. 2019 Oct 3;105(4):854-868. doi: 10.1016/j.ajhg.2019.09.005.

PubMed [citation]

PMID:: 31585109
PMCID:: PMC6817525

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001439158.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

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

Last Updated: May 19, 2024

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