NM_000539.3(RHO):c.50C>T (p.Thr17Met) AND Retinitis pigmentosa 4

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 1, 2020
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:: RCV000013892.27

Allele description [Variation Report for NM_000539.3(RHO):c.50C>T (p.Thr17Met)]

NM_000539.3(RHO):c.50C>T (p.Thr17Met)

Gene:

RHO:rhodopsin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q22.1

Genomic location:

Preferred name:

NM_000539.3(RHO):c.50C>T (p.Thr17Met)

HGVS:

NC_000003.12:g.129528783C>T
NG_009115.1:g.5145C>T
NM_000539.3:c.50C>TMANE SELECT
NP_000530.1:p.Thr17Met
NC_000003.11:g.129247626C>T
P08100:p.Thr17Met

Protein change:

T17M; THR17MET

Links:

UniProtKB: P08100#VAR_004767; OMIM: 180380.0006; dbSNP: rs104893769

NCBI 1000 Genomes Browser:

rs104893769

Molecular consequence:

NM_000539.3:c.50C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Retinitis pigmentosa 4 (RP4)
Synonyms:: RP 4; RETINITIS PIGMENTOSA, RHODOPSIN-RELATED
Identifiers:: MONDO: MONDO:0013395; MedGen: C3151001; Orphanet: 791; OMIM: 613731

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000034139	OMIM	no assertion criteria provided	Pathogenic (Sep 15, 1991)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 1862076, 1882937
SCV001443197	Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 1, 2020)	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

SCV000034139

OMIM

no assertion criteria provided

Pathogenic
(Sep 15, 1991)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

SCV001443197

Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 1, 2020)

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
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

Sung CH, Davenport CM, Hennessey JC, Maumenee IH, Jacobson SG, Heckenlively JR, Nowakowski R, Fishman G, Gouras P, Nathans J.

Proc Natl Acad Sci U S A. 1991 Aug 1;88(15):6481-5.

PubMed [citation]

PMID:: 1862076
PMCID:: PMC52109

Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations.

Jacobson SG, Kemp CM, Sung CH, Nathans J.

Am J Ophthalmol. 1991 Sep 15;112(3):256-71.

PubMed [citation]

PMID:: 1882937

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000034139.1

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

Description

See Sung et al. (1991). Also see Jacobson et al. (1991) and 180380.0004.

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

From Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals, SCV001443197.1

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

#	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: Nov 30, 2024

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