NM_022124.6(CDH23):c.7C>T (p.Arg3Cys) AND not provided

Clinical significance:Benign (Last evaluated: Dec 5, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000086977.5

Allele description [Variation Report for NM_022124.6(CDH23):c.7C>T (p.Arg3Cys)]

NM_022124.6(CDH23):c.7C>T (p.Arg3Cys)

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.7C>T (p.Arg3Cys)
HGVS:
  • NC_000010.11:g.71439838C>T
  • NG_008835.1:g.47892C>T
  • NM_001171930.2:c.7C>T
  • NM_001171931.2:c.7C>T
  • NM_001171932.2:c.7C>T
  • NM_022124.6:c.7C>TMANE SELECT
  • NM_052836.4:c.7C>T
  • NP_001165401.1:p.Arg3Cys
  • NP_001165402.1:p.Arg3Cys
  • NP_001165403.1:p.Arg3Cys
  • NP_071407.4:p.Arg3Cys
  • NP_443068.1:p.Arg3Cys
  • NC_000010.10:g.73199595C>T
  • NM_022124.4:c.7C>T
  • NM_022124.5:c.7C>T
  • c.7C>T
Protein change:
R3C
Links:
dbSNP: rs7902757
NCBI 1000 Genomes Browser:
rs7902757
Molecular consequence:
  • NM_001171930.2:c.7C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171931.2:c.7C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171932.2:c.7C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022124.6:c.7C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_052836.4:c.7C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000119230NEI Ophthalmic Genomics Laboratory,National Institutes of Healthno assertion providednot providednot providednot provided

SCV000841482Athena Diagnostics Inccriteria provided, single submitter
Benign
(May 23, 2018)
germlineclinical testing

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

SCV001719499Invitaecriteria provided, single submitter
Benign
(Dec 5, 2020)
germlineclinical testing

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

SCV001871407GeneDxcriteria provided, single submitter
Benign
(Mar 3, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From NEI Ophthalmic Genomics Laboratory,National Institutes of Health, SCV000119230.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

From Athena Diagnostics Inc, SCV000841482.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Invitae, SCV001719499.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001871407.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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