NM_022124.5(CDH23):c.5660C>T (p.Thr1887Ile) AND not specified

Clinical significance:Benign (Last evaluated: Jul 19, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000039222.3

Allele description [Variation Report for NM_022124.5(CDH23):c.5660C>T (p.Thr1887Ile)]

NM_022124.5(CDH23):c.5660C>T (p.Thr1887Ile)

Gene:
CDH23:cadherin related 23 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_022124.5(CDH23):c.5660C>T (p.Thr1887Ile)
HGVS:
  • NC_000010.11:g.71785048C>T
  • NG_008835.1:g.393102C>T
  • NM_022124.5:c.5660C>T
  • NP_071407.4:p.Thr1887Ile
  • NC_000010.10:g.73544805C>T
  • c.5660C>T
Protein change:
T1887I
Links:
dbSNP: rs397517340
NCBI 1000 Genomes Browser:
rs397517340
Molecular consequence:
  • NM_022124.5:c.5660C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
10

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
SCV000062906Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Jul 19, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1010not providednot providednot providedclinical testing

Citations

PubMed

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

Astuto LM, Bork JM, Weston MD, Askew JW, Fields RR, Orten DJ, Ohliger SJ, Riazuddin S, Morell RJ, Khan S, Riazuddin S, Kremer H, van Hauwe P, Moller CG, Cremers CW, Ayuso C, Heckenlively JR, Rohrschneider K, Spandau U, Greenberg J, Ramesar R, Reardon W, et al.

Am J Hum Genet. 2002 Aug;71(2):262-75. Epub 2002 Jun 19.

PubMed [citation]
PMID:
12075507
PMCID:
PMC379159

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, SCV000062906.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided10not providednot providedclinical testing PubMed (2)

Description

p.Thr1887Ile in exon 43 of CDH23: This variant is not expected to have clinical significance because it has been identified in 2.6% (431/16512) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs397517340).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided10not provided10not provided

Last Updated: Jun 17, 2019

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