NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly) AND Usher syndrome type 2A

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 11, 2019
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:: RCV001825481.1

Allele description [Variation Report for NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly)]

NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly)

Genes:

USH2A-AS1:USH2A antisense RNA 1 [Gene - HGNC]
USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly)

HGVS:

NC_000001.11:g.216198380A>C
NG_009497.2:g.230069T>G
NM_007123.6:c.4016T>G
NM_206933.4:c.4016T>GMANE SELECT
NP_009054.6:p.Val1339Gly
NP_996816.3:p.Val1339Gly
NC_000001.10:g.216371722A>C
NG_009497.1:g.230017T>G
NM_206933.2:c.4016T>G

Protein change:

V1339G

Links:

dbSNP: rs781668118

NCBI 1000 Genomes Browser:

rs781668118

Molecular consequence:

NM_007123.6:c.4016T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_206933.4:c.4016T>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002093912	Natera, Inc.	no assertion criteria provided	Uncertain significance (Nov 11, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002093912

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Nov 11, 2019)

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., SCV002093912.1

#	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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