NM_022124.6(CDH23):c.3220+5G>A AND Usher syndrome type 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 11, 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:: RCV001828609.1

Allele description [Variation Report for NM_022124.6(CDH23):c.3220+5G>A]

NM_022124.6(CDH23):c.3220+5G>A

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.3220+5G>A

HGVS:

NC_000010.11:g.71709216G>A
NG_008835.1:g.317270G>A
NM_001171930.2:c.3220+5G>A
NM_022124.6:c.3220+5G>AMANE SELECT
NC_000010.10:g.73468973G>A

Links:

dbSNP: rs977262704

NCBI 1000 Genomes Browser:

rs977262704

Molecular consequence:

NM_001171930.2:c.3220+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_022124.6:c.3220+5G>A - intron variant - [Sequence Ontology: SO:0001627]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002088017	Natera, Inc.	no assertion criteria provided	Uncertain significance (Mar 11, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002088017

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Mar 11, 2020)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002088017.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Sep 29, 2024

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