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NM_004360.5(CDH1):c.48+16T>C AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 11, 2013
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:
RCV000131397.1

Allele description [Variation Report for NM_004360.5(CDH1):c.48+16T>C]

NM_004360.5(CDH1):c.48+16T>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.48+16T>C
HGVS:
  • NC_000016.10:g.68737479T>C
  • NG_008021.1:g.5188T>C
  • NM_001317184.2:c.48+16T>C
  • NM_001317185.2:c.-1568+16T>C
  • NM_001317186.2:c.-1772+16T>C
  • NM_004360.5:c.48+16T>CMANE SELECT
  • LRG_301t1:c.48+16T>C
  • LRG_301:g.5188T>C
  • NC_000016.9:g.68771382T>C
  • NM_004360.3:c.48+16T>C
Links:
dbSNP: rs587782389
NCBI 1000 Genomes Browser:
rs587782389
Molecular consequence:
  • NM_001317184.2:c.48+16T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001317185.2:c.-1568+16T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001317186.2:c.-1772+16T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004360.5:c.48+16T>C - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000186373Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Likely benign
(Dec 11, 2013) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000186373.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024