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NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 2, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000213719.4

Allele description [Variation Report for NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr)]

NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr)

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.3118G>T (p.Asp1040Tyr)
HGVS:
  • NC_000010.11:g.71709109G>T
  • NG_008835.1:g.317163G>T
  • NM_001171930.2:c.3118G>T
  • NM_022124.6:c.3118G>TMANE SELECT
  • NP_001165401.1:p.Asp1040Tyr
  • NP_071407.4:p.Asp1040Tyr
  • NC_000010.10:g.73468866G>T
  • NM_022124.5:c.3118G>T
Protein change:
D1040Y
Links:
dbSNP: rs200177873
NCBI 1000 Genomes Browser:
rs200177873
Molecular consequence:
  • NM_001171930.2:c.3118G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022124.6:c.3118G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000271555Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Jul 2, 2015) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
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, Mass General Brigham Personalized Medicine, SCV000271555.2

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

Description

The p.Asp1040Tyr variant in CDH23 has not been previously reported in individual s with hearing loss or Usher syndrome, but has been identified in 16/65892 Europ ean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org; dbSNP rs200177873). Computational prediction tools and conservation a nalyses suggest that the p.Asp1040Tyr variant may impact the protein, though thi s information is not predictive enough to determine pathogenicity. In summary, t he clinical significance of the p.Asp1040Tyr variant is uncertain.

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

Last Updated: Nov 24, 2024