NM_015102.5(NPHP4):c.2459G>A (p.Arg820Gln) AND Nephronophthisis

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000380703.1

Allele description [Variation Report for NM_015102.5(NPHP4):c.2459G>A (p.Arg820Gln)]

NM_015102.5(NPHP4):c.2459G>A (p.Arg820Gln)

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.2459G>A (p.Arg820Gln)
HGVS:
  • NC_000001.11:g.5887312C>T
  • NG_011724.2:g.110160G>A
  • NM_001291593.2:c.920G>A
  • NM_001291594.2:c.923G>A
  • NM_015102.5:c.2459G>A
  • NP_001278522.1:p.Arg307Gln
  • NP_001278523.1:p.Arg308Gln
  • NP_055917.1:p.Arg820Gln
  • NC_000001.10:g.5947372C>T
  • NM_015102.3:c.2459G>A
  • NR_111987.1:n.2724G>A
Protein change:
R307Q
Links:
dbSNP: rs759656675
NCBI 1000 Genomes Browser:
rs759656675
Molecular consequence:
  • NM_001291593.2:c.920G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291594.2:c.923G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015102.5:c.2459G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Nephronophthisis
Synonyms:
juvenile nephronophthisis
Identifiers:
MedGen: C0687120; OMIM: PS256100; Human Phenotype Ontology: HP:0000090

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000358470Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000358470.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 2, 2019

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