NM_206933.4(USH2A):c.3934del (p.Ala1312fs) AND Retinal dystrophy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 1, 2023
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:: RCV003889102.1

Allele description [Variation Report for NM_206933.4(USH2A):c.3934del (p.Ala1312fs)]

NM_206933.4(USH2A):c.3934del (p.Ala1312fs)

Genes:

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

Variant type:

Deletion

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.3934del (p.Ala1312fs)

HGVS:

NC_000001.11:g.216198463del
NG_009497.2:g.229987del
NM_007123.6:c.3934del
NM_206933.4:c.3934delMANE SELECT
NP_009054.6:p.Ala1312fs
NP_996816.3:p.Ala1312fs
NC_000001.10:g.216371805del
NG_009497.1:g.229935del
NM_206933.4:c.3934delGMANE SELECT

Protein change:

A1312fs

Links:

dbSNP: rs2102464166

NCBI 1000 Genomes Browser:

rs2102464166

Molecular consequence:

NM_007123.6:c.3934del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_206933.4:c.3934del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Retinal dystrophy
Synonyms:: Inherited retinal dystrophy
Identifiers:: MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004708016	Dept Of Ophthalmology, Nagoya University	criteria provided, single submitter (Submitter's publication)	Likely pathogenic (Oct 1, 2023)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004708016

Dept Of Ophthalmology, Nagoya University

criteria provided, single submitter

(Submitter's publication)

Likely pathogenic
(Oct 1, 2023)

germline

research

Help

Summary from all submissions

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

Details of each submission

From Dept Of Ophthalmology, Nagoya University, SCV004708016.1

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

#	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		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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