NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Feb 28, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000657978.2

Allele description [Variation Report for NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu)]

NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu)

Gene:
CDH23:cadherin related 23 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu)
HGVS:
  • NC_000010.11:g.71793582C>A
  • NG_008835.1:g.401636C>A
  • NM_022124.6:c.6654C>AMANE SELECT
  • NP_071407.4:p.Asp2218Glu
  • NC_000010.10:g.73553339C>A
  • NM_022124.5:c.6654C>A
Protein change:
D2218E
Links:
dbSNP: rs537236734
NCBI 1000 Genomes Browser:
rs537236734
Molecular consequence:
  • NM_022124.6:c.6654C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000779749GeneDxcriteria provided, single submitter
Uncertain significance
(Feb 28, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000779749.3

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

Description

In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Nov 27, 2021

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