NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln) AND not specified

Clinical significance:Benign (Last evaluated: Dec 5, 2019)

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:
RCV000039274.6

Allele description [Variation Report for NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln)]

NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln)

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.7762G>C (p.Glu2588Gln)
HGVS:
  • NC_000010.11:g.71803310G>C
  • NG_008835.1:g.411364G>C
  • NM_001171933.1:c.1042G>C
  • NM_001171934.1:c.1042G>C
  • NM_022124.6:c.7762G>CMANE SELECT
  • NP_001165404.1:p.Glu348Gln
  • NP_001165405.1:p.Glu348Gln
  • NP_071407.4:p.Glu2588Gln
  • NC_000010.10:g.73563067G>C
  • NM_022124.5:c.7762G>C
  • c.7762G>C
Protein change:
E2588Q
Links:
dbSNP: rs41281338
NCBI 1000 Genomes Browser:
rs41281338
Molecular consequence:
  • NM_001171933.1:c.1042G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171934.1:c.1042G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022124.6:c.7762G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
31

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000062958Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Oct 17, 2011)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV001475762Athena Diagnostics Inccriteria provided, single submitter
Benign
(Dec 5, 2019)
unknownclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot provided3031not 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

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

Bonnet C, Grati M, Marlin S, Levilliers J, Hardelin JP, Parodi M, Niasme-Grare M, Zelenika D, Délépine M, Feldmann D, Jonard L, El-Amraoui A, Weil D, Delobel B, Vincent C, Dollfus H, Eliot MM, David A, Calais C, Vigneron J, Montaut-Verient B, Bonneau D, et al.

Orphanet J Rare Dis. 2011 May 11;6:21. doi: 10.1186/1750-1172-6-21.

PubMed [citation]
PMID:
21569298
PMCID:
PMC3125325
See all PubMed Citations (6)

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000062958.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided30not providednot providedclinical testing PubMed (4)

Description

Glu2588Gln in exon 55 of CDH23: This variant is not expected to have clinical si gnificance due to its occurrence at an equal frequency in the general population (Astuto 2002, Oshima 2008, Kothiyal 2010), its presence in dbSNP at a frequency of 0.9% (8/899) of control chromosomes (rs41281338), and the lack of conservati on of Glu2588 as cow, dog, cat, and opossum all have a glutamine (Gln) at this p osition.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided30not provided31not provided

From Athena Diagnostics Inc, SCV001475762.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 26, 2021

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