U.S. flag

An official website of the United States government

NM_004360.5(CDH1):c.280C>T (p.Pro94Ser) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 15, 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:
RCV000481538.1

Allele description [Variation Report for NM_004360.5(CDH1):c.280C>T (p.Pro94Ser)]

NM_004360.5(CDH1):c.280C>T (p.Pro94Ser)

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.280C>T (p.Pro94Ser)
HGVS:
  • NC_000016.10:g.68801786C>T
  • NG_008021.1:g.69495C>T
  • NM_001317184.2:c.280C>T
  • NM_001317185.2:c.-1336C>T
  • NM_001317186.2:c.-1540C>T
  • NM_004360.5:c.280C>TMANE SELECT
  • NP_001304113.1:p.Pro94Ser
  • NP_004351.1:p.Pro94Ser
  • LRG_301t1:c.280C>T
  • LRG_301:g.69495C>T
  • NC_000016.9:g.68835689C>T
  • NM_004360.3:c.280C>T
  • NM_004360.4:c.280C>T
Protein change:
P94S
Links:
dbSNP: rs1064793862
NCBI 1000 Genomes Browser:
rs1064793862
Molecular consequence:
  • NM_001317185.2:c.-1336C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317186.2:c.-1540C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317184.2:c.280C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004360.5:c.280C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000567211GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jul 15, 2015) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000567211.4

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

Description

This variant is denoted CDH1 c.280C>T at the cDNA level, p.Pro94Ser (P94S) at the protein level, and results in the change of a Proline to a Serine (CCA>TCA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. CDH1 Pro94Ser was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Proline and Serine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. CDH1 Pro94Ser occurs at a position that is not conserved and is not located in a known functional domain (Figueiredo 2013). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available information, it is unclear whether CDH1 Pro94Ser is pathogenic or benign. 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: Dec 24, 2023