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NM_000539.3(RHO):c.235del (p.Asn78_Leu79insTer) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 3, 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:
RCV001231371.6

Allele description [Variation Report for NM_000539.3(RHO):c.235del (p.Asn78_Leu79insTer)]

NM_000539.3(RHO):c.235del (p.Asn78_Leu79insTer)

Gene:
RHO:rhodopsin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3q22.1
Genomic location:
Preferred name:
NM_000539.3(RHO):c.235del (p.Asn78_Leu79insTer)
HGVS:
  • NC_000003.12:g.129528968del
  • NG_009115.1:g.5330del
  • NM_000539.3:c.235delMANE SELECT
  • NP_000530.1:p.Asn78_Leu79insTer
  • NC_000003.11:g.129247810del
  • NC_000003.11:g.129247811del
Links:
dbSNP: rs1478248064
NCBI 1000 Genomes Browser:
rs1478248064
Molecular consequence:
  • NM_000539.3:c.235del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001403891Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jun 3, 2022) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa.

Rosenfeld PJ, Cowley GS, McGee TL, Sandberg MA, Berson EL, Dryja TP.

Nat Genet. 1992 Jun;1(3):209-13.

PubMed [citation]
PMID:
1303237

A novel nonsense mutation in rhodopsin gene in two Indonesian families with autosomal recessive retinitis pigmentosa.

Kartasasmita A, Fujiki K, Iskandar E, Sovani I, Fujimaki T, Murakami A.

Ophthalmic Genet. 2011 Mar;32(1):57-63. doi: 10.3109/13816810.2010.535892. Epub 2010 Dec 21.

PubMed [citation]
PMID:
21174529
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001403891.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 958245). This variant has not been reported in the literature in individuals affected with RHO-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Leu79*) in the RHO gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RHO are known to be pathogenic (PMID: 1303237, 21174529).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024