U.S. flag

An official website of the United States government

NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) AND Usher syndrome type 1

Germline classification:
Benign (2 submissions)
Last evaluated:
Sep 16, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000217147.12

Allele description [Variation Report for NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)]

NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)

Genes:
CDH23:cadherin related 23 [Gene - OMIM - HGNC]
C10orf105:chromosome 10 open reading frame 105 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)
HGVS:
  • NC_000010.11:g.71730514A>G
  • NG_008835.1:g.338568A>G
  • NM_001168390.2:c.-6+7214T>C
  • NM_001171930.2:c.3625A>G
  • NM_022124.6:c.3625A>GMANE SELECT
  • NP_001165401.1:p.Thr1209Ala
  • NP_071407.4:p.Thr1209Ala
  • NP_071407.4:p.Thr1209Ala
  • NC_000010.10:g.73490271A>G
  • NM_022124.4:c.3625A>G
  • NM_022124.5:c.3625A>G
  • c.3625A>G
Protein change:
T1209A; THR1209ALA
Links:
OMIM: 605516.0013; dbSNP: rs41281314
NCBI 1000 Genomes Browser:
rs41281314
Molecular consequence:
  • NM_001168390.2:c.-6+7214T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001171930.2:c.3625A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022124.6:c.3625A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Usher syndrome type 1 (USH1)
Synonyms:
Usher syndrome, type I, French variety; Retinitis pigmentosa and congenital deafness
Identifiers:
MONDO: MONDO:0010168; MedGen: C1568247; Orphanet: 231169; Orphanet: 886; OMIM: 276900

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000268755GeneReviews
no classification provided
not providedgermlineliterature only

SCV001455311Natera, Inc.
no assertion criteria provided
Benign
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From GeneReviews, SCV000268755.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Natera, Inc., SCV001455311.1

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

Last Updated: Jun 9, 2024