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NM_004360.5(CDH1):c.84C>A (p.Cys28Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 22, 2024
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:
RCV002447702.2

Allele description [Variation Report for NM_004360.5(CDH1):c.84C>A (p.Cys28Ter)]

NM_004360.5(CDH1):c.84C>A (p.Cys28Ter)

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.84C>A (p.Cys28Ter)
HGVS:
  • NC_000016.10:g.68738332C>A
  • NG_008021.1:g.6041C>A
  • NM_001317184.2:c.84C>A
  • NM_001317185.2:c.-1532C>A
  • NM_001317186.2:c.-1736C>A
  • NM_004360.5:c.84C>AMANE SELECT
  • NP_001304113.1:p.Cys28Ter
  • NP_004351.1:p.Cys28Ter
  • NP_004351.1:p.Cys28Ter
  • LRG_301t1:c.84C>A
  • LRG_301:g.6041C>A
  • LRG_301p1:p.Cys28Ter
  • NC_000016.9:g.68772235C>A
  • NM_004360.3:c.84C>A
Protein change:
C28*
Molecular consequence:
  • NM_001317185.2:c.-1532C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317186.2:c.-1736C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317184.2:c.84C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004360.5:c.84C>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002678526Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Mar 22, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002678526.2

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

Description

The p.C28* pathogenic mutation (also known as c.84C>A), located in coding exon 2 of the CDH1 gene, results from a C to A substitution at nucleotide position 84. This changes the amino acid from a cysteine to a stop codon within coding exon 2. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Aug 11, 2024