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NM_004360.5(CDH1):c.164-45T>C AND Hereditary diffuse gastric adenocarcinoma

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000989617.2

Allele description [Variation Report for NM_004360.5(CDH1):c.164-45T>C]

NM_004360.5(CDH1):c.164-45T>C

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.164-45T>C
HGVS:
  • NC_000016.10:g.68801625T>C
  • NG_008021.1:g.69334T>C
  • NM_001317184.2:c.164-45T>C
  • NM_001317185.2:c.-1452-45T>C
  • NM_001317186.2:c.-1656-45T>C
  • NM_004360.5:c.164-45T>CMANE SELECT
  • LRG_301:g.69334T>C
  • NC_000016.9:g.68835528T>C
Links:
dbSNP: rs189978842
NCBI 1000 Genomes Browser:
rs189978842
Molecular consequence:
  • NM_001317184.2:c.164-45T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001317185.2:c.-1452-45T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001317186.2:c.-1656-45T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004360.5:c.164-45T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001140128Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Likely benign
(May 28, 2019) 		unknownclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV001140128.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023