NM_206933.4(USH2A):c.1139A>G (p.Tyr380Cys) AND Usher syndrome type 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 14, 2022
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:: RCV002307376.1

Allele description [Variation Report for NM_206933.4(USH2A):c.1139A>G (p.Tyr380Cys)]

NM_206933.4(USH2A):c.1139A>G (p.Tyr380Cys)

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.1139A>G (p.Tyr380Cys)

HGVS:

NC_000001.11:g.216325309T>C
NG_009497.2:g.103140A>G
NM_007123.6:c.1139A>G
NM_206933.4:c.1139A>GMANE SELECT
NP_009054.6:p.Tyr380Cys
NP_996816.3:p.Tyr380Cys
NC_000001.10:g.216498651T>C
NG_009497.1:g.103088A>G
NM_206933.2:c.1139A>G
c.1139A>G

Protein change:

Y380C

Links:

dbSNP: rs111033395

NCBI 1000 Genomes Browser:

rs111033395

Molecular consequence:

NM_007123.6:c.1139A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_206933.4:c.1139A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Usher syndrome type 2
Synonyms:: Usher Syndrome, Type II
Identifiers:: MONDO: MONDO:0016484; MedGen: C0339534

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002600269	Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana	no assertion criteria provided	Pathogenic (Nov 14, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002600269

Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana

no assertion criteria provided

Pathogenic
(Nov 14, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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	not provided	not provided	clinical testing

Citations

PubMed

Usher Syndrome.

Castiglione A, Möller C.

Audiol Res. 2022 Jan 11;12(1):42-65. doi: 10.3390/audiolres12010005. Review.

PubMed [citation]

PMID:: 35076463
PMCID:: PMC8788290

Details of each submission

From Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana, SCV002600269.1

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

Description

Novel pathogenic variant. PP4 (manual), PM3 (manual), PM2 , PP3, PP5. https://franklin.genoox.com/clinical-db/variant/snp/chr1-216498651-T-C

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

Last Updated: Mar 5, 2024

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