NM_001354768.3(NRL):c.375C>G (p.His125Gln) AND Retinitis pigmentosa

Germline classification:: Benign (1 submission)
Last evaluated:: Apr 27, 2017
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:: RCV001112200.5

Allele description [Variation Report for NM_001354768.3(NRL):c.375C>G (p.His125Gln)]

NM_001354768.3(NRL):c.375C>G (p.His125Gln)

Gene:

NRL:neural retina leucine zipper [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_001354768.3(NRL):c.375C>G (p.His125Gln)

HGVS:

NC_000014.9:g.24082474G>C
NG_011697.2:g.37541C>G
NM_001354768.3:c.375C>GMANE SELECT
NM_001354769.1:c.375C>G
NM_001354770.2:c.66+309C>G
NM_006177.5:c.375C>G
NP_001341697.1:p.His125Gln
NP_001341698.1:p.His125Gln
NP_006168.1:p.His125Gln
NC_000014.8:g.24551683G>C
NM_006177.3:c.375C>G

Protein change:

H125Q

Links:

dbSNP: rs201970559

NCBI 1000 Genomes Browser:

rs201970559

Molecular consequence:

NM_001354770.2:c.66+309C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354768.3:c.375C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354769.1:c.375C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_006177.5:c.375C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Retinitis pigmentosa (RP)
Synonyms:: Tapetoretinal degeneration
Identifiers:: MONDO: MONDO:0019200; MeSH: D012174; MedGen: C0035334; Orphanet: 791; OMIM: 268000; OMIM: PS268000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001269841	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Benign (Apr 27, 2017)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 17335001, 15591106, 27081294 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001269841

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Benign
(Apr 27, 2017)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.

Kanda A, Friedman JS, Nishiguchi KM, Swaroop A.

Hum Mutat. 2007 Jun;28(6):589-98.

PubMed [citation]

PMID:: 17335001

Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function.

Nishiguchi KM, Friedman JS, Sandberg MA, Swaroop A, Berson EL, Dryja TP.

Proc Natl Acad Sci U S A. 2004 Dec 21;101(51):17819-24. Epub 2004 Dec 9.

PubMed [citation]

PMID:: 15591106
PMCID:: PMC535407

See all PubMed Citations (3)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001269841.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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

Last Updated: Oct 20, 2024

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