NM_004360.5(CDH1):c.244G>A (p.Val82Met) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 31, 2017
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:
RCV000482425.1

Allele description [Variation Report for NM_004360.5(CDH1):c.244G>A (p.Val82Met)]

NM_004360.5(CDH1):c.244G>A (p.Val82Met)

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.244G>A (p.Val82Met)
HGVS:
  • NC_000016.10:g.68801750G>A
  • NG_008021.1:g.69459G>A
  • NM_001317184.2:c.244G>A
  • NM_001317185.2:c.-1372G>A
  • NM_001317186.2:c.-1576G>A
  • NM_004360.5:c.244G>AMANE SELECT
  • NP_001304113.1:p.Val82Met
  • NP_004351.1:p.Val82Met
  • LRG_301t1:c.244G>A
  • LRG_301:g.69459G>A
  • NC_000016.9:g.68835653G>A
  • NM_004360.3:c.244G>A
  • NM_004360.4:c.244G>A
Protein change:
V82M
Links:
dbSNP: rs1064793867
NCBI 1000 Genomes Browser:
rs1064793867
Molecular consequence:
  • NM_001317185.2:c.-1372G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317186.2:c.-1576G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317184.2:c.244G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004360.5:c.244G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000567234GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jan 31, 2017) 		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, SCV000567234.3

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

Description

This variant is denoted CDH1 c.244G>A at the cDNA level, p.Val82Met (V82M) at the protein level, and results in the change of a Valine to a Methionine (GTG>ATG). This variant has been observed in at least one individual with early-onset breast cancer (Maxwell 2015). CDH1 Val82Met was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Valine and Methionine share similar properties, this is considered a conservative amino acid substitution. CDH1 Val82Met occurs at a position that is not conserved and is located in the precursor sequence (Brooks-Wilson 2004). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether CDH1 Val82Met is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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

Last Updated: Sep 29, 2024