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NM_004360.5(CDH1):c.377C>G (p.Pro126Arg) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 1, 2016
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:
RCV000587043.1

Allele description [Variation Report for NM_004360.5(CDH1):c.377C>G (p.Pro126Arg)]

NM_004360.5(CDH1):c.377C>G (p.Pro126Arg)

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.377C>G (p.Pro126Arg)
HGVS:
  • NC_000016.10:g.68801883C>G
  • NG_008021.1:g.69592C>G
  • NM_001317184.2:c.377C>G
  • NM_001317185.2:c.-1239C>G
  • NM_001317186.2:c.-1443C>G
  • NM_004360.5:c.377C>GMANE SELECT
  • NP_001304113.1:p.Pro126Arg
  • NP_004351.1:p.Pro126Arg
  • LRG_301t1:c.377C>G
  • LRG_301:g.69592C>G
  • NC_000016.9:g.68835786C>G
  • NM_004360.3:c.377C>G
Protein change:
P126R
Links:
dbSNP: rs746703615
NCBI 1000 Genomes Browser:
rs746703615
Molecular consequence:
  • NM_001317185.2:c.-1239C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317186.2:c.-1443C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317184.2:c.377C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004360.5:c.377C>G - 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
SCV000698397Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jul 1, 2016) 		germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx

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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000698397.1

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

Description

Variant summary: The CDH1 c.377C>G (p.Pro126Arg) variant involves the alteration of a non-conserved nucleotide. 2/4 in silico tools predict a benign outcome. This variant was found in 1/120398 control chromosomes, which is not high enough to rule out the pathogenicity. One internal sample also carried a BRCA2 pathogenic variant c.6025C>T/p.Q2009X, supporting the possible benign nature of this variant. In addition, one clinical diagnostic laboratory classified this variant as VUS, without evidence to independently evaluate. The variant of interest has not, to our knowledge, been reported in affected individuals via publication; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS until more information becomes available.

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

Last Updated: Sep 29, 2024