NM_206933.4(USH2A):c.14969-2A>G AND Usher syndrome type 2A

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 1, 2021
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:: RCV001822896.1

Allele description [Variation Report for NM_206933.4(USH2A):c.14969-2A>G]

NM_206933.4(USH2A):c.14969-2A>G

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.14969-2A>G

HGVS:

NC_000001.11:g.215639240T>C
NG_009497.2:g.789209A>G
NM_206933.4:c.14969-2A>GMANE SELECT
NC_000001.10:g.215812582T>C
NM_206933.2:c.14969-2A>G

Links:

dbSNP: rs2102634730

NCBI 1000 Genomes Browser:

rs2102634730

Molecular consequence:

NM_206933.4:c.14969-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:: Usher syndrome type 2A
Synonyms:: USHER SYNDROME, TYPE IIA; RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF
Identifiers:: MONDO: MONDO:0010169; MedGen: C1848634; Orphanet: 231178; Orphanet: 886; OMIM: 276901

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001762425	WangQJ Lab, Chinese People's Liberation Army General Hospital	no assertion criteria provided	Likely pathogenic (Jul 1, 2021)	maternal	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001762425

WangQJ Lab, Chinese People's Liberation Army General Hospital

no assertion criteria provided

Likely pathogenic
(Jul 1, 2021)

maternal

clinical testing

Help

Summary from all submissions

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

Details of each submission

From WangQJ Lab, Chinese People's Liberation Army General Hospital, SCV001762425.1

#	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	maternal	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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