NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter) AND Usher syndrome type 2A

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 1, 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:: RCV001826849.1

Allele description [Variation Report for NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter)]

NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter)

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter)

HGVS:

NC_000001.11:g.215650687G>A
NG_009497.2:g.777762C>T
NM_206933.4:c.14248C>TMANE SELECT
NP_996816.3:p.Gln4750Ter
NC_000001.10:g.215824029G>A
NG_009497.1:g.777710C>T
NM_206933.2:c.14248C>T
p.Gln4750X

Protein change:

Q4750*

Links:

dbSNP: rs727504867

Molecular consequence:

NM_206933.4:c.14248C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002088233	Natera, Inc.	no assertion criteria provided	Pathogenic (Sep 1, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002088233

Natera, Inc.

no assertion criteria provided

Pathogenic
(Sep 1, 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., SCV002088233.1

#	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: Apr 12, 2026

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