NM_022124.6(CDH23):c.6852G>C (p.Leu2284=) AND not specified

Clinical significance:Benign (Last evaluated: Jan 27, 2016)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000039256.8

Allele description [Variation Report for NM_022124.6(CDH23):c.6852G>C (p.Leu2284=)]

NM_022124.6(CDH23):c.6852G>C (p.Leu2284=)

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.6852G>C (p.Leu2284=)
HGVS:
  • NC_000010.11:g.71798376G>C
  • NG_008835.1:g.406430G>C
  • NM_001171933.1:c.132G>C
  • NM_001171934.1:c.132G>C
  • NM_022124.6:c.6852G>CMANE SELECT
  • NP_001165404.1:p.Leu44=
  • NP_001165405.1:p.Leu44=
  • NP_071407.4:p.Leu2284=
  • NC_000010.10:g.73558133G>C
  • NM_022124.5:c.6852G>C
  • c.6852G>C
  • p.Leu2284Leu
Links:
dbSNP: rs56013867
NCBI 1000 Genomes Browser:
rs56013867
Molecular consequence:
  • NM_001171933.1:c.132G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001171934.1:c.132G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_022124.6:c.6852G>C - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
18

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
SCV000062940Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(May 14, 2012)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV000338223EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Jan 27, 2016)
germlineclinical testing

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

Citation Link,

SCV001925679Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing
not providedgermlinenot provided1818not providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot 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

Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.

Oshima A, Jaijo T, Aller E, Millan JM, Carney C, Usami S, Moller C, Kimberling WJ.

Hum Mutat. 2008 Jun;29(6):E37-46. doi: 10.1002/humu.20761.

PubMed [citation]
PMID:
18429043
PMCID:
PMC2399895

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000062940.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided18not providednot providedclinical testing PubMed (2)

Description

Leu2284Leu in Exon 50 of CDH23: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, has been identified in 0.5% (35/6928) of Europe an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs56013867) and is reported as be nign (Oshima 2008).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided18not provided18not provided

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000338223.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus, SCV001925679.1

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

Last Updated: Nov 10, 2021

Support Center