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NM_004360.5(CDH1):c.2646C>T (p.Asp882=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 31, 2018
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:
RCV000612448.8

Allele description [Variation Report for NM_004360.5(CDH1):c.2646C>T (p.Asp882=)]

NM_004360.5(CDH1):c.2646C>T (p.Asp882=)

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.2646C>T (p.Asp882=)
HGVS:
  • NC_000016.10:g.68833496C>T
  • NG_008021.1:g.101205C>T
  • NM_001317184.2:c.2463C>T
  • NM_001317185.2:c.1098C>T
  • NM_001317186.2:c.681C>T
  • NM_004360.5:c.2646C>TMANE SELECT
  • NP_001304113.1:p.Asp821=
  • NP_001304114.1:p.Asp366=
  • NP_001304115.1:p.Asp227=
  • NP_004351.1:p.Asp882=
  • LRG_301t1:c.2646C>T
  • LRG_301:g.101205C>T
  • NC_000016.9:g.68867399C>T
  • NM_004360.3:c.2646C>T
Links:
dbSNP: rs1555518315
NCBI 1000 Genomes Browser:
rs1555518315
Molecular consequence:
  • NM_001317184.2:c.2463C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001317185.2:c.1098C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001317186.2:c.681C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004360.5:c.2646C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000727288GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Jan 31, 2018) 		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, SCV000727288.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Nov 10, 2024