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NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV003483479.1

Allele description [Variation Report for NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn)]

NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn)

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.2413G>A (p.Asp805Asn)
Other names:
p.D805N:GAT>AAT; NM_004360.4(CDH1):c.2413G>A
HGVS:
  • NC_000016.10:g.68829771G>A
  • NG_008021.1:g.97480G>A
  • NM_001317184.2:c.2230G>A
  • NM_001317185.2:c.865G>A
  • NM_001317186.2:c.448G>A
  • NM_004360.5:c.2413G>AMANE SELECT
  • NP_001304113.1:p.Asp744Asn
  • NP_001304114.1:p.Asp289Asn
  • NP_001304115.1:p.Asp150Asn
  • NP_004351.1:p.Asp805Asn
  • LRG_301t1:c.2413G>A
  • LRG_301:g.97480G>A
  • NC_000016.9:g.68863674G>A
  • NM_004360.3:c.2413G>A
  • NM_004360.4:c.2413G>A
  • p.D805N
Protein change:
D150N
Links:
dbSNP: rs200894246
NCBI 1000 Genomes Browser:
rs200894246
Molecular consequence:
  • NM_001317184.2:c.2230G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317185.2:c.865G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317186.2:c.448G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004360.5:c.2413G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; Hereditary breast cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480
Name:
Hereditary diffuse gastric adenocarcinoma (HDGC)
Synonyms:
Hereditary diffuse gastric cancer
Identifiers:
MONDO: MONDO:0007648; MedGen: C1708349; Orphanet: 26106; OMIM: 137215

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004228480GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1not providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV004228480.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 04-08-2016 by Lab Quest Diagnostics. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 13, 2024