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NM_004360.5(CDH1):c.337A>T (p.Lys113Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 3, 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:
RCV000220040.5

Allele description [Variation Report for NM_004360.5(CDH1):c.337A>T (p.Lys113Ter)]

NM_004360.5(CDH1):c.337A>T (p.Lys113Ter)

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.337A>T (p.Lys113Ter)
HGVS:
  • NC_000016.10:g.68801843A>T
  • NG_008021.1:g.69552A>T
  • NM_001317184.2:c.337A>T
  • NM_001317185.2:c.-1279A>T
  • NM_001317186.2:c.-1483A>T
  • NM_004360.5:c.337A>TMANE SELECT
  • NP_001304113.1:p.Lys113Ter
  • NP_004351.1:p.Lys113Ter
  • LRG_301t1:c.337A>T
  • LRG_301:g.69552A>T
  • NC_000016.9:g.68835746A>T
  • NM_004360.3:c.337A>T
  • NM_004360.4(CDH1):c.337A>T
  • p.Lys113Ter
Protein change:
K113*
Links:
dbSNP: rs876661106
NCBI 1000 Genomes Browser:
rs876661106
Molecular consequence:
  • NM_001317185.2:c.-1279A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317186.2:c.-1483A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317184.2:c.337A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004360.5:c.337A>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000279542GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Nov 3, 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, SCV000279542.8

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

Description

This variant is denoted CDH1 c.337A>T at the cDNA level and p.Lys113Ter (K113X) at the protein level. The substitution creates a nonsense variant, which changes a Lysine to a premature stop codon (AAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.

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

Last Updated: Oct 26, 2024