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NM_153240.5(NPHP3):c.1357C>T (p.Leu453=) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Feb 1, 2023
Review status:
criteria provided, conflicting classifications
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:
RCV000729265.12

Allele description [Variation Report for NM_153240.5(NPHP3):c.1357C>T (p.Leu453=)]

NM_153240.5(NPHP3):c.1357C>T (p.Leu453=)

Genes:
NPHP3-ACAD11:NPHP3-ACAD11 readthrough (NMD candidate) [Gene - HGNC]
NPHP3:nephrocystin 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q22.1
Genomic location:
Preferred name:
NM_153240.5(NPHP3):c.1357C>T (p.Leu453=)
HGVS:
  • NC_000003.12:g.132704365G>A
  • NG_008130.2:g.23068C>T
  • NM_153240.4:c.1357C>T
  • NM_153240.5:c.1357C>TMANE SELECT
  • NP_694972.3:p.Leu453=
  • NC_000003.11:g.132423209G>A
  • NG_008130.1:g.23068C>T
  • NR_037804.1:n.1461C>T
Links:
dbSNP: rs535110862
NCBI 1000 Genomes Browser:
rs535110862
Molecular consequence:
  • NR_037804.1:n.1461C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_153240.5:c.1357C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
3

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000856912Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)
Uncertain significance
(Jul 30, 2018)
germlineclinical testing

Citation Link,

SCV004155569CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Likely benign
(Feb 1, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000856912.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From CeGaT Center for Human Genetics Tuebingen, SCV004155569.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

NPHP3: BP4, BP7

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

Last Updated: Jul 15, 2024