U.S. flag

An official website of the United States government

NM_004360.5(CDH1):c.48+6C>T AND not provided

Germline classification:
Benign (3 submissions)
Last evaluated:
Nov 30, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001356941.20

Allele description [Variation Report for NM_004360.5(CDH1):c.48+6C>T]

NM_004360.5(CDH1):c.48+6C>T

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.48+6C>T
HGVS:
  • NC_000016.10:g.68737469C>T
  • NG_008021.1:g.5178C>T
  • NM_001317184.2:c.48+6C>T
  • NM_001317185.2:c.-1568+6C>T
  • NM_001317186.2:c.-1772+6C>T
  • NM_004360.4(CDH1):c.48+6C>T
  • NM_004360.5:c.48+6C>TMANE SELECT
  • LRG_301t1:c.48+6C>T
  • LRG_301:g.5178C>T
  • NC_000016.9:g.68771372C>T
  • NM_004360.3:c.48+6C>T
  • NM_004360.4(CDH1):c.48+6C>T
  • NM_004360.4:c.48+6C>T
Links:
dbSNP: rs3743674
NCBI 1000 Genomes Browser:
rs3743674
Molecular consequence:
  • NM_001317184.2:c.48+6C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001317185.2:c.-1568+6C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001317186.2:c.-1772+6C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004360.5:c.48+6C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001472270ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)
Benign
(Nov 30, 2023)
germlineclinical testing

Citation Link,

SCV001552242Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Uncertain significanceunknownclinical testing

SCV005255460Breakthrough Genomics, Breakthrough Genomics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benigngermlinenot provided

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providednot provided
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownyes0not 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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001472270.7

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

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001552242.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided0not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided0not providednot providednot provided

From Breakthrough Genomics, Breakthrough Genomics, SCV005255460.1

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

Last Updated: Oct 26, 2024