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NM_015102.5(NPHP4):c.3721G>A (p.Val1241Ile) AND NPHP4-related disorder

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV003331084.1

Allele description [Variation Report for NM_015102.5(NPHP4):c.3721G>A (p.Val1241Ile)]

NM_015102.5(NPHP4):c.3721G>A (p.Val1241Ile)

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.3721G>A (p.Val1241Ile)
HGVS:
  • NC_000001.11:g.5865197C>T
  • NG_011724.2:g.132275G>A
  • NM_001291593.2:c.2182G>A
  • NM_001291594.2:c.2185G>A
  • NM_015102.5:c.3721G>AMANE SELECT
  • NP_001278522.1:p.Val728Ile
  • NP_001278523.1:p.Val729Ile
  • NP_055917.1:p.Val1241Ile
  • NC_000001.10:g.5925257C>T
  • NM_015102.4:c.3721G>A
  • NR_111987.2:n.4488G>A
Protein change:
V1241I
Links:
dbSNP: rs535789951
NCBI 1000 Genomes Browser:
rs535789951
Molecular consequence:
  • NM_001291593.2:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291594.2:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015102.5:c.3721G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_111987.2:n.4488G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
NPHP4-related disorder
Synonyms:
NPHP4-Related Disorders; NPHP4-related condition
Identifiers:
MedGen: CN239384

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004037509GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1not providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV004037509.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided

Description

Variant classified as Uncertain significance and reported on 08-21-2017 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: May 12, 2024