U.S. flag

An official website of the United States government

NM_022124.6(CDH23):c.4210-2A>G AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 21, 2016
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:
RCV000710062.1

Allele description [Variation Report for NM_022124.6(CDH23):c.4210-2A>G]

NM_022124.6(CDH23):c.4210-2A>G

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.4210-2A>G
HGVS:
  • NC_000010.11:g.71738496A>G
  • NG_008835.1:g.346550A>G
  • NM_022124.6:c.4210-2A>GMANE SELECT
  • NC_000010.10:g.73498253A>G
  • NM_022124.5:c.4210-2A>G
Links:
dbSNP: rs557620034
NCBI 1000 Genomes Browser:
rs557620034
Molecular consequence:
  • NM_022124.6:c.4210-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
Observations:
1

Condition(s)

Name:
Usher syndrome type 1D (USH1D)
Synonyms:
USHER SYNDROME, TYPE ID
Identifiers:
MONDO: MONDO:0010984; MedGen: C1832845; Orphanet: 231169; Orphanet: 886; OMIM: 601067
Name:
Autosomal recessive nonsyndromic hearing loss 84A
Synonyms:
Deafness, autosomal recessive 84; DEAFNESS, AUTOSOMAL RECESSIVE 84A; DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION
Identifiers:
MONDO: MONDO:0013249; MedGen: C3150654; Orphanet: 90636; OMIM: 613391

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000840447Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Sep 21, 2016) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota, SCV000840447.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: May 1, 2024