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NM_004360.5(CDH1):c.1711+1G>A AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 26, 2021
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:
RCV000492546.4

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

NM_004360.5(CDH1):c.1711+1G>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.1711+1G>A
HGVS:
  • NC_000016.10:g.68819426G>A
  • NG_008021.1:g.87135G>A
  • NM_001317184.2:c.1528+1G>A
  • NM_001317185.2:c.163+1G>A
  • NM_001317186.2:c.-254-2575G>A
  • NM_004360.4:c.1711+1G>A
  • NM_004360.5:c.1711+1G>AMANE SELECT
  • LRG_301t1:c.1711+1G>A
  • LRG_301:g.87135G>A
  • NC_000016.9:g.68853329G>A
  • NC_000016.9:g.68853329G>A
  • NM_004360.3:c.1711+1G>A
  • NM_004360.4(CDH1):c.1711+1G>A
Links:
dbSNP: rs886041161
NCBI 1000 Genomes Browser:
rs886041161
Molecular consequence:
  • NM_001317186.2:c.-254-2575G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001317184.2:c.1528+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001317185.2:c.163+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004360.5:c.1711+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000580706Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Feb 26, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000580706.6

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

Description

The c.1711+1G>A intronic pathogenic mutation results from a G to A substitution one nucleotide after coding exon 11 of the CDH1 gene. A different alteration at this splice site, c.1711+1G>C, has been reported in an individual with lobular breast cancer and in a cleft lip/palate (CLP) / hereditary diffuse gastric cancer (HDGC) family (Sarrió D et al. Int J Cancer, 2003 Aug;106:208-15, Obermair F et al. Fam Cancer, 2019 04;18:253-260). In silico splice site analysis predicts that this alteration will weaken the native splice donor site. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as a disease-causing mutation.

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

Last Updated: Sep 29, 2024