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NM_004360.5(CDH1):c.445C>A (p.Leu149Ile) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 12, 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:
RCV000214362.1

Allele description [Variation Report for NM_004360.5(CDH1):c.445C>A (p.Leu149Ile)]

NM_004360.5(CDH1):c.445C>A (p.Leu149Ile)

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.445C>A (p.Leu149Ile)
HGVS:
  • NC_000016.10:g.68808481C>A
  • NG_008021.1:g.76190C>A
  • NM_001317184.2:c.445C>A
  • NM_001317185.2:c.-1171C>A
  • NM_001317186.2:c.-1375C>A
  • NM_004360.5:c.445C>AMANE SELECT
  • NP_001304113.1:p.Leu149Ile
  • NP_004351.1:p.Leu149Ile
  • LRG_301t1:c.445C>A
  • LRG_301:g.76190C>A
  • NC_000016.9:g.68842384C>A
  • NM_004360.3:c.445C>A
Protein change:
L149I
Links:
dbSNP: rs876658781
NCBI 1000 Genomes Browser:
rs876658781
Molecular consequence:
  • NM_001317185.2:c.-1171C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317186.2:c.-1375C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317184.2:c.445C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004360.5:c.445C>A - missense variant - [Sequence Ontology: SO:0001583]
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
SCV000274468Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Uncertain significance
(Mar 12, 2015) 		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, SCV000274468.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Thep.L149Ivariant (also known as c.445C>A), located in coding exon 4 of theCDH1gene, results from a C to A substitution at nucleotide position 445. The leucine at codon 149 is replaced by isoleucine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6498 samples (12996 alleles) with coverage at this position.To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 73000 alleles tested) in our clinical cohort. Based on proteinsequence alignment, thisamino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive.Since supporting evidence is limited at this time, the clinical significance ofp.L149Iremains unclear.

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

Last Updated: Dec 24, 2023