NM_025114.4(CEP290):c.5285G>A (p.Arg1762His) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 23, 2022
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003151284.2

Allele description [Variation Report for NM_025114.4(CEP290):c.5285G>A (p.Arg1762His)]

NM_025114.4(CEP290):c.5285G>A (p.Arg1762His)

Gene:

CEP290:centrosomal protein 290 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q21.32

Genomic location:

Preferred name:

NM_025114.4(CEP290):c.5285G>A (p.Arg1762His)

HGVS:

NC_000012.12:g.88079171C>T
NG_008417.2:g.68046G>A
NM_025114.4:c.5285G>AMANE SELECT
NP_079390.3:p.Arg1762His
LRG_694t1:c.5285G>A
LRG_694:g.68046G>A
LRG_694p1:p.Arg1762His
NC_000012.11:g.88472948C>T
NC_000012.11:g.88472948C>T
NG_008417.1:g.68046G>A
NM_025114.3:c.5285G>A

Protein change:

R1762H

Links:

dbSNP: rs761763799

NCBI 1000 Genomes Browser:

rs761763799

Molecular consequence:

NM_025114.4:c.5285G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003839352	Genetic Services Laboratory, University of Chicago	no assertion criteria provided	Uncertain significance (Aug 23, 2022)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003839352

Genetic Services Laboratory, University of Chicago

no assertion criteria provided

Uncertain significance
(Aug 23, 2022)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV003839352.1

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

Description

DNA sequence analysis of the CEP290 gene demonstrated a sequence change, c.5285G>A, in exon 39 that results in an amino acid change, p.Arg1762His. This sequence change has been previously described in one individual with suspected retinitis pigmentosa (PMID: 31054281). This sequence change has been described in the gnomAD database with a frequency of 0.0017% in the overall population (dbSNP rs761763799). The p.Arg1762His change affects a moderately conserved amino acid residue. The p.Arg1762His substitution appears to be benign using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Arg1762His change remains unknown at this time.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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