NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 26, 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:: RCV000154384.4

Allele description [Variation Report for NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser)]

NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser)

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.8311G>A (p.Gly2771Ser)

HGVS:

NC_000010.11:g.71807518G>A
NG_008835.1:g.415572G>A
NM_001171933.1:c.1591G>A
NM_001171934.1:c.1591G>A
NM_022124.6:c.8311G>AMANE SELECT
NP_001165404.1:p.Gly531Ser
NP_001165405.1:p.Gly531Ser
NP_071407.4:p.Gly2771Ser
NC_000010.10:g.73567275G>A
NM_022124.5:c.8311G>A

Protein change:

G2771S

Links:

dbSNP: rs201076440

NCBI 1000 Genomes Browser:

rs201076440

Molecular consequence:

NM_001171933.1:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001171934.1:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_022124.6:c.8311G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000204050	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Dec 26, 2013)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 18429043, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000204050

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Dec 26, 2013)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical 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

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, SCV000204050.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

Description

The Gly2771Ser variant in CDH23 has been previously reported in the heterozygous state in one individual with Usher syndrome; however, a second variant in CDH23 was not identified (Oshima 2008). This variant has been identified in 0.06% (5/ 8412) of European American chromosomes by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS/; dbSNP rs201076440); however, this frequency is not high enough to rule out a pathogenic role. Computational analyses (biochemic al amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not p rovide strong support for or against an impact to the protein. In summary, addit ional data is needed to determine the clinical significance of this variant.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Sep 29, 2024

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