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NM_000539.3(RHO):c.233A>T (p.Asn78Ile) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 6, 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:
RCV002651738.2

Allele description [Variation Report for NM_000539.3(RHO):c.233A>T (p.Asn78Ile)]

NM_000539.3(RHO):c.233A>T (p.Asn78Ile)

Gene:
RHO:rhodopsin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q22.1
Genomic location:
Preferred name:
NM_000539.3(RHO):c.233A>T (p.Asn78Ile)
HGVS:
  • NC_000003.12:g.129528966A>T
  • NG_009115.1:g.5328A>T
  • NG_100653.1:g.477A>T
  • NM_000539.3:c.233A>TMANE SELECT
  • NP_000530.1:p.Asn78Ile
  • NC_000003.11:g.129247809A>T
Protein change:
N78I
Molecular consequence:
  • NM_000539.3:c.233A>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003525281Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 6, 2023) 		germlineclinical testing

PubMed (4)
[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

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

Molecular screening of rhodopsin and peripherin/RDS genes in Mexican families with autosomal dominant retinitis pigmentosa.

Matias-Florentino M, Ayala-Ramirez R, Graue-Wiechers F, Zenteno JC.

Curr Eye Res. 2009 Dec;34(12):1050-6. doi: 10.3109/02713680903283169.

PubMed [citation]
PMID:
19958124
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV003525281.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects RHO function (PMID: 30977563). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt RHO protein function. This missense change has been observed in individuals with autosomal dominant retinosis pigmentaria (PMID: 19958124, 23402891; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 78 of the RHO protein (p.Asn78Ile).

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

Last Updated: Jun 23, 2024