NM_206933.4(USH2A):c.13465_13466insTG (p.Gly4489fs) AND Usher syndrome type 2A

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 10, 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:: RCV001174953.1

Allele description [Variation Report for NM_206933.4(USH2A):c.13465_13466insTG (p.Gly4489fs)]

NM_206933.4(USH2A):c.13465_13466insTG (p.Gly4489fs)

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.13465_13466insTG (p.Gly4489fs)

HGVS:

NC_000001.11:g.215674446_215674447insAC
NG_009497.1:g.753951_753952insTG
NG_009497.2:g.754003_754004insTG
NM_206933.4:c.13465_13466insTGMANE SELECT
NP_996816.3:p.Gly4489fs
NC_000001.10:g.215847788_215847789insAC
NM_206933.3:c.13465_13466insTG

Protein change:

G4489fs

Links:

dbSNP: rs1657929865

NCBI 1000 Genomes Browser:

rs1657929865

Molecular consequence:

NM_206933.4:c.13465_13466insTG - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001338414	National Institute on Deafness and Communication Disorders, National Institutes of Health	no assertion criteria provided	Pathogenic (Dec 10, 2019)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001338414

National Institute on Deafness and Communication Disorders, National Institutes of Health

no assertion criteria provided

Pathogenic
(Dec 10, 2019)

germline

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	yes	research

Details of each submission

From National Institute on Deafness and Communication Disorders, National Institutes of Health, SCV001338414.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	yes	research	not provided

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

Last Updated: Apr 23, 2022

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