NM_206933.4(USH2A):c.263_340del (p.Cys88_Asn114delinsTyr) AND Usher syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 31, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV003389518.1

Allele description [Variation Report for NM_206933.4(USH2A):c.263_340del (p.Cys88_Asn114delinsTyr)]

NM_206933.4(USH2A):c.263_340del (p.Cys88_Asn114delinsTyr)

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.263_340del (p.Cys88_Asn114delinsTyr)

HGVS:

NC_000001.11:g.216421997_216422074del
NG_009497.2:g.6375_6452del
NM_007123.6:c.263_340del
NM_206933.4:c.263_340delMANE SELECT
NP_009054.6:p.Cys88_Asn114delinsTyr
NP_996816.3:p.Cys88_Asn114delinsTyr
NC_000001.10:g.216595339_216595416del

Molecular consequence:

NM_007123.6:c.263_340del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_206933.4:c.263_340del - inframe_indel - [Sequence Ontology: SO:0001820]

Condition(s)

Name:: Usher syndrome
Synonyms:: Usher Syndromes; Usher's syndrome
Identifiers:: MONDO: MONDO:0019501; MeSH: D052245; MedGen: C0271097; Orphanet: 886; OMIM: PS276900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003927065	SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 31, 2022)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003927065

SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 31, 2022)

unknown

research

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	unknown	yes	2	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation, SCV003927065.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	research	PubMed (1)

Description

This variant was observed as homozygous in one proband and in compound heterozygosity with the variant NC_000001.10:g.216011418C>T in another proband.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Nov 20, 2023

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