NM_004360.5(CDH1):c.2644G>A (p.Asp882Asn) AND CDH1-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 4, 2023
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:: RCV003398713.4

Allele description [Variation Report for NM_004360.5(CDH1):c.2644G>A (p.Asp882Asn)]

NM_004360.5(CDH1):c.2644G>A (p.Asp882Asn)

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.2644G>A (p.Asp882Asn)

Other names:

p.D882N:GAC>AAC

HGVS:

NC_000016.10:g.68833494G>A
NG_008021.1:g.101203G>A
NM_001317184.2:c.2461G>A
NM_001317185.2:c.1096G>A
NM_001317186.2:c.679G>A
NM_004360.5:c.2644G>AMANE SELECT
NP_001304113.1:p.Asp821Asn
NP_001304114.1:p.Asp366Asn
NP_001304115.1:p.Asp227Asn
NP_004351.1:p.Asp882Asn
LRG_301t1:c.2644G>A
LRG_301:g.101203G>A
NC_000016.9:g.68867397G>A
NM_004360.3:c.2644G>A
NM_004360.4:c.2644G>A
p.D882N

Protein change:

D227N

Links:

dbSNP: rs200104963

NCBI 1000 Genomes Browser:

rs200104963

Molecular consequence:

NM_001317184.2:c.2461G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001317185.2:c.1096G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001317186.2:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004360.5:c.2644G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: CDH1-related disorder
Synonyms:: CDH1-related condition
Identifiers:

Recent activity

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Typhlatya dzilamensis voucher YUC23-06 large subunit ribosomal RNA gene, partial sequence; mitochondrial
gi|2791103843|gb|PQ219277.1|

Nucleotide
Typhlatya dzilamensis voucher YUC23-11a large subunit ribosomal RNA gene, partia...
Typhlatya dzilamensis voucher YUC23-11a large subunit ribosomal RNA gene, partial sequence; mitochondrial
gi|2791103848|gb|PQ219282.1|

Nucleotide
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Cladosporium cucumerinum strain F4 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequence
gi|2283223441|gb|OP168733.1|

Nucleotide
RecName: Full=Translational activator of cytochrome c oxidase 1; AltName: Full=C...
RecName: Full=Translational activator of cytochrome c oxidase 1; AltName: Full=Coiled-coil domain-containing protein 44; AltName: Full=Translational activator of mitochondrially-encoded cytochrome c oxidase I
gi|263511729|sp|B2RYT9.1|TACO1_RAT

Protein
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Triticum urartu cultivar G1812 unplaced genomic scaffold scaffold72766, whole genome shotgun sequence
gi|473903710|gb|KD244972.1||gnl|WGS 01|scaffold72766

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004104552	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 4, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004104552

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 4, 2023)

germline

clinical testing

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004104552.1

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

Description

The CDH1 c.2644G>A variant is predicted to result in the amino acid substitution p.Asp882Asn. This variant has been reported with uncertain significance in an individual with breast/ovarian cancer (Bonache et al. 2018. PubMed ID: 30306255). This variant is reported in 0.020% of alleles in individuals of European (Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-68867397-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#	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: Sep 29, 2024

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