NM_022124.6(CDH23):c.7630T>C (p.Leu2544=) AND not specified

Clinical significance:Benign (Last evaluated: Feb 8, 2012)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000039272.2

Allele description [Variation Report for NM_022124.6(CDH23):c.7630T>C (p.Leu2544=)]

NM_022124.6(CDH23):c.7630T>C (p.Leu2544=)

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.7630T>C (p.Leu2544=)
HGVS:
  • NC_000010.11:g.71803045T>C
  • NG_008835.1:g.411099T>C
  • NM_001171933.1:c.910T>C
  • NM_001171934.1:c.910T>C
  • NM_022124.6:c.7630T>CMANE SELECT
  • NP_001165404.1:p.Leu304=
  • NP_001165405.1:p.Leu304=
  • NP_071407.4:p.Leu2544=
  • NC_000010.10:g.73562802T>C
  • NM_022124.5:c.7630T>C
  • c.7630T>C
  • p.Leu2544Leu
Links:
dbSNP: rs114819374
NCBI 1000 Genomes Browser:
rs114819374
Molecular consequence:
  • NM_001171933.1:c.910T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001171934.1:c.910T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_022124.6:c.7630T>C - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
15

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
SCV000062956Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Feb 8, 2012)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1515not providednot providednot providedclinical testing

Citations

PubMed

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

High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays.

Kothiyal P, Cox S, Ebert J, Husami A, Kenna MA, Greinwald JH, Aronow BJ, Rehm HL.

BMC Biotechnol. 2010 Feb 10;10:10. doi: 10.1186/1472-6750-10-10.

PubMed [citation]
PMID:
20146813
PMCID:
PMC2841091
See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000062956.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided15not providednot providedclinical testing PubMed (3)

Description

Leu2544Leu in exon 54 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, and has been identified in 2.5% (82/3230) of Af rican American chromosomes and 0.14% (10/6716) of European American chromosomes from a broad, though clinically unspecified population (NHLBI Exome Sequencing P roject; http://evs.gs.washington.edu/EVS, dbSNP rs114819374).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided15not provided15not provided

Last Updated: Oct 6, 2021

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