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NM_004360.5(CDH1):c.2435A>G (p.Asp812Gly) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 2, 2021
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:
RCV002487070.3

Allele description [Variation Report for NM_004360.5(CDH1):c.2435A>G (p.Asp812Gly)]

NM_004360.5(CDH1):c.2435A>G (p.Asp812Gly)

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.2435A>G (p.Asp812Gly)
HGVS:
  • NC_000016.10:g.68829793A>G
  • NG_008021.1:g.97502A>G
  • NM_001317184.2:c.2252A>G
  • NM_001317185.2:c.887A>G
  • NM_001317186.2:c.470A>G
  • NM_004360.5:c.2435A>GMANE SELECT
  • NP_001304113.1:p.Asp751Gly
  • NP_001304114.1:p.Asp296Gly
  • NP_001304115.1:p.Asp157Gly
  • NP_004351.1:p.Asp812Gly
  • LRG_301t1:c.2435A>G
  • LRG_301:g.97502A>G
  • NC_000016.9:g.68863696A>G
  • NM_004360.3:c.2435A>G
Protein change:
D157G
Links:
dbSNP: rs878854684
NCBI 1000 Genomes Browser:
rs878854684
Molecular consequence:
  • NM_001317184.2:c.2252A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317185.2:c.887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317186.2:c.470A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004360.5:c.2435A>G - 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:
Blepharocheilodontic syndrome 1 (BCDS1)
Identifiers:
MONDO: MONDO:0054740; MedGen: C4551988; Orphanet: 1997; OMIM: 119580
Name:
Endometrial carcinoma
Synonyms:
Endometrial carcinoma, somatic
Identifiers:
MONDO: MONDO:0002447; MedGen: C0476089; OMIM: 608089; Human Phenotype Ontology: HP:0012114
Name:
Hereditary diffuse gastric adenocarcinoma (HDGC)
Synonyms:
Hereditary diffuse gastric cancer
Identifiers:
MONDO: MONDO:0007648; MedGen: C1708349; Orphanet: 26106; OMIM: 137215
Name:
Ovarian neoplasm
Synonyms:
Neoplasm of ovary; Ovarian tumor; Ovarian Neoplasms
Identifiers:
MONDO: MONDO:0021068; MeSH: D010051; MedGen: C0919267; Human Phenotype Ontology: HP:0100615
Name:
Malignant tumor of prostate
Synonyms:
Prostate cancer
Identifiers:
MONDO: MONDO:0008315; MedGen: C0376358; Orphanet: 1331; Human Phenotype Ontology: HP:0012125

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002783267Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Sep 2, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical 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 Fulgent Genetics, Fulgent Genetics, SCV002783267.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024