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NM_004360.5(CDH1):c.2440-6C>G AND Malignant tumor of prostate

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 7, 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:
RCV003315642.8

Allele description [Variation Report for NM_004360.5(CDH1):c.2440-6C>G]

NM_004360.5(CDH1):c.2440-6C>G

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.2440-6C>G
Other names:
IVS15-6C>G
HGVS:
  • NC_000016.10:g.68833284C>G
  • NG_008021.1:g.100993C>G
  • NM_001317184.2:c.2257-6C>G
  • NM_001317185.2:c.892-6C>G
  • NM_001317186.2:c.475-6C>G
  • NM_004360.5:c.2440-6C>GMANE SELECT
  • LRG_301t1:c.2440-6C>G
  • LRG_301:g.100993C>G
  • NC_000016.9:g.68867187C>G
  • NM_004360.3:c.2440-6C>G
  • NM_004360.4:c.2440-6C>G
Links:
dbSNP: rs139757930
NCBI 1000 Genomes Browser:
rs139757930
Molecular consequence:
  • NM_001317184.2:c.2257-6C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001317185.2:c.892-6C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001317186.2:c.475-6C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004360.5:c.2440-6C>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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
SCV004017014KCCC/NGS Laboratory, Kuwait Cancer Control Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 7, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV004017014.1

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

Last Updated: Oct 26, 2024