NM_015102.5(NPHP4):c.2335C>T (p.Gln779Ter) AND Senior-Loken syndrome 4

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 2002
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:: RCV000003573.11

Allele description [Variation Report for NM_015102.5(NPHP4):c.2335C>T (p.Gln779Ter)]

NM_015102.5(NPHP4):c.2335C>T (p.Gln779Ter)

Gene:

NPHP4:nephrocystin 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.31

Genomic location:

Preferred name:

NM_015102.5(NPHP4):c.2335C>T (p.Gln779Ter)

HGVS:

NC_000001.11:g.5887436G>A
NG_011724.2:g.110036C>T
NM_001291593.2:c.796C>T
NM_001291594.2:c.799C>T
NM_015102.5:c.2335C>TMANE SELECT
NP_001278522.1:p.Gln266Ter
NP_001278523.1:p.Gln267Ter
NP_055917.1:p.Gln779Ter
NC_000001.10:g.5947496G>A
NM_015102.4:c.2335C>T
NR_111987.2:n.2552C>T

Protein change:

Q266*; GLN779TER

Links:

OMIM: 607215.0006; dbSNP: rs137852922

NCBI 1000 Genomes Browser:

rs137852922

Molecular consequence:

NR_111987.2:n.2552C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001291593.2:c.796C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001291594.2:c.799C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_015102.5:c.2335C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Senior-Loken syndrome 4 (SLSN4)
Identifiers:: MONDO: MONDO:0011756; MedGen: C1846979; Orphanet: 3156; OMIM: 606996

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000023731	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 2002)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 12205563, 6837691, 11920287

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000023731

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 2002)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.

Otto E, Hoefele J, Ruf R, Mueller AM, Hiller KS, Wolf MT, Schuermann MJ, Becker A, Birkenhäger R, Sudbrak R, Hennies HC, Nürnberg P, Hildebrandt F.

Am J Hum Genet. 2002 Nov;71(5):1161-7. Epub 2002 Aug 29.

PubMed [citation]

PMID:: 12205563
PMCID:: PMC385091

Carrier detection in tapetoretinal degeneration in association with medullary cystic disease.

Polak BC, van Lith FH, Delleman JW, van Balen AT.

Am J Ophthalmol. 1983 Apr;95(4):487-94.

PubMed [citation]

PMID:: 6837691

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000023731.2

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

Description

In 3 sibs of Turkish origin with Senior-Loken syndrome-4 (SLSN4; 606996), Otto et al. (2002) demonstrated homozygosity for a gln779-to-ter (Q779X) mutation in the NPHP4 gene. Polak et al. (1983) and Schuermann et al. (2002) provided clinical data concerning these patients. They developed end-stage renal disease (ESRD) at ages 28, 30, and 35 years. All 3 had retinal changes suggestive of Leber amaurosis congenita (see 204000).

#	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

Last Updated: Apr 20, 2024

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