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NM_004360.5(CDH1):c.*8G>A AND Hereditary diffuse gastric adenocarcinoma

Germline classification:
Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:
Aug 1, 2022
Review status:
criteria provided, conflicting classifications
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:
RCV000198728.8

Allele description [Variation Report for NM_004360.5(CDH1):c.*8G>A]

NM_004360.5(CDH1):c.*8G>A

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.*8G>A
HGVS:
  • NC_000016.10:g.68833507G>A
  • NG_008021.1:g.101216G>A
  • NM_001317184.2:c.*8G>A
  • NM_001317185.2:c.*8G>A
  • NM_001317186.2:c.*8G>A
  • NM_004360.5:c.*8G>AMANE SELECT
  • LRG_301t1:c.*8G>A
  • LRG_301:g.101216G>A
  • NC_000016.9:g.68867410G>A
  • NM_004360.3:c.*8G>A
  • NM_004360.4:c.*8G>A
Links:
dbSNP: rs201223411
NCBI 1000 Genomes Browser:
rs201223411
Molecular consequence:
  • NM_001317184.2:c.*8G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001317185.2:c.*8G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001317186.2:c.*8G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_004360.5:c.*8G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
Observations:
8

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000253405Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Likely benign
(Mar 27, 2015)
germlineclinical testing

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

SCV000488334Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))
Uncertain significance
(Mar 1, 2016)
unknownclinical testing

Counsyl Autosomal Dominant Disease Classification criteria (2015),

Citation Link,

SCV003926978European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto - ERN GENTURIS
criteria provided, single submitter

(Lee et al. (Hum Mutat. 2018))
Uncertain significance
(Aug 1, 2022)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenonot provided8not providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.

Lee K, Krempely K, Roberts ME, Anderson MJ, Carneiro F, Chao E, Dixon K, Figueiredo J, Ghosh R, Huntsman D, Kaurah P, Kesserwan C, Landrith T, Li S, Mensenkamp AR, Oliveira C, Pardo C, Pesaran T, Richardson M, Slavin TP, Spurdle AB, Trapp M, et al.

Hum Mutat. 2018 Nov;39(11):1553-1568. doi: 10.1002/humu.23650.

PubMed [citation]
PMID:
30311375
PMCID:
PMC6188664
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV000253405.2

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

From Counsyl, SCV000488334.2

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

From European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto - ERN GENTURIS, SCV003926978.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

"8 families not fulfilling 2020 HDGC criteria-4 Familial history of breast cancer; 4 Familial history of other cancers than gastric cancer or breast cancer"

Description

BS2_Supporting (PMID: 30311375)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot provided8not provided

Last Updated: Jul 15, 2024