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NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 11, 2013
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:
RCV000150283.4

Allele description [Variation Report for NM_022124.6(CDH23):c.2236G>A (p.Val746Ile)]

NM_022124.6(CDH23):c.2236G>A (p.Val746Ile)

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.2236G>A (p.Val746Ile)
HGVS:
  • NC_000010.11:g.71694206G>A
  • NG_008835.1:g.302260G>A
  • NM_001171930.2:c.2236G>A
  • NM_001171931.2:c.2236G>A
  • NM_022124.6:c.2236G>AMANE SELECT
  • NP_001165401.1:p.Val746Ile
  • NP_001165402.1:p.Val746Ile
  • NP_071407.4:p.Val746Ile
  • NC_000010.10:g.73453963G>A
  • NM_022124.5:c.2236G>A
Protein change:
V746I
Links:
dbSNP: rs550384315
NCBI 1000 Genomes Browser:
rs550384315
Molecular consequence:
  • NM_001171930.2:c.2236G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171931.2:c.2236G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022124.6:c.2236G>A - 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
SCV000197308Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Jun 11, 2013) 		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, SCV000197308.4

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

Description

Variant classified as Uncertain Significance - Favor Benign. The Val746Ile varia nt in CDH23 has not been reported in individuals with hearing loss or in large p opulation studies. Computational analyses (biochemical amino acid properties, co nservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Of note, frog has a isoleucine (Ile) at this position despite high nearby amino acid conservation. In summary, the clinical s ignificance of this variant cannot be determined with certainty; however, based upon the arguments described above, we would lean towards a more likely benign r ole.

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

Last Updated: Sep 29, 2024