NM_000539.3(RHO):c.1003del (p.Ala335fs) AND Retinal dystrophy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 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:: RCV004816127.1

Allele description [Variation Report for NM_000539.3(RHO):c.1003del (p.Ala335fs)]

NM_000539.3(RHO):c.1003del (p.Ala335fs)

Gene:

RHO:rhodopsin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3q22.1

Genomic location:

Preferred name:

NM_000539.3(RHO):c.1003del (p.Ala335fs)

HGVS:

NC_000003.12:g.129533674del
NG_009115.1:g.10036del
NM_000539.3:c.1003delMANE SELECT
NP_000530.1:p.Ala335fs
NC_000003.11:g.129252517del

Protein change:

A335fs

Molecular consequence:

NM_000539.3:c.1003del - 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
SCV005073229	Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 1, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 17488458, 30977563, 31429209, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005073229

Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 1, 2023)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

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	clinical testing

Citations

PubMed

Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F.

Grøndahl J, Riise R, Heiberg A, Leren T, Christoffersen T, Bragadottir R.

Acta Ophthalmol Scand. 2007 May;85(3):287-97.

PubMed [citation]

PMID:: 17488458

Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.

Wan A, Place E, Pierce EA, Comander J.

Hum Mutat. 2019 Aug;40(8):1127-1144. doi: 10.1002/humu.23762. Epub 2019 Jun 22.

PubMed [citation]

PMID:: 30977563
PMCID:: PMC7027811

See all PubMed Citations (4)

Details of each submission

From Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg, SCV005073229.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

#	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: Dec 28, 2024

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