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NM_004360.5(CDH1):c.1711+1G>C AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 25, 2015
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:
RCV000322113.2

Allele description [Variation Report for NM_004360.5(CDH1):c.1711+1G>C]

NM_004360.5(CDH1):c.1711+1G>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.1711+1G>C
HGVS:
  • NC_000016.10:g.68819426G>C
  • NG_008021.1:g.87135G>C
  • NM_001317184.2:c.1528+1G>C
  • NM_001317185.2:c.163+1G>C
  • NM_001317186.2:c.-254-2575G>C
  • NM_004360.3(CDH1):c.1711+1G>C
  • NM_004360.5:c.1711+1G>CMANE SELECT
  • LRG_301t1:c.1711+1G>C
  • LRG_301:g.87135G>C
  • NC_000016.9:g.68853329G>C
  • NC_000016.9:g.68853329G>C
  • NM_004360.3(CDH1):c.1711+1G>C
  • NM_004360.3:c.1711+1G>C
  • NM_004360.5:c.1711+1G>C
Links:
dbSNP: rs886041161
NCBI 1000 Genomes Browser:
rs886041161
Molecular consequence:
  • NM_001317186.2:c.-254-2575G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001317184.2:c.1528+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001317185.2:c.163+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004360.5:c.1711+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000329230GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Aug 25, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000329230.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This pathogenic variant is denoted CDH1 c.1711+1 G>C or IVS11+1 G>C and consists of a G>C nucleotide substitution at the +1 position of intron 11 of the CDH1 gene. The variant destroys a canonical splice donor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. This variant has been reported in a lobular breast tumor (Sarrio 2003). We therefore consider this variant to be pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024