NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly) AND not specified

Clinical significance:Benign (Last evaluated: Oct 28, 2016)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000218523.4

Allele description [Variation Report for NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly)]

NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly)

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.9014C>G (p.Ala3005Gly)
HGVS:
  • NC_000010.11:g.71810506C>G
  • NG_008835.1:g.418560C>G
  • NM_001171933.1:c.2294C>G
  • NM_001171934.1:c.2294C>G
  • NM_022124.6:c.9014C>GMANE SELECT
  • NP_001165404.1:p.Ala765Gly
  • NP_001165405.1:p.Ala765Gly
  • NP_071407.4:p.Ala3005Gly
  • NC_000010.10:g.73570263C>G
  • NM_022124.5:c.9014C>G
Protein change:
A3005G
Links:
dbSNP: rs188966938
NCBI 1000 Genomes Browser:
rs188966938
Molecular consequence:
  • NM_001171933.1:c.2294C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171934.1:c.2294C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022124.6:c.9014C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000268856Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Mar 3, 2016)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV000701662EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Oct 28, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000268856.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

p.Ala3005Gly in exon 62 of CDH23: This variant is not expected to have clinical significance because it has been identified in 1% (162/16502) of South Asian chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs188966938)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000701662.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 6, 2021

Support Center