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NM_153240.5(NPHP3):c.406del (p.Thr136fs) AND not provided

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Oct 5, 2018
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000734775.6

Allele description [Variation Report for NM_153240.5(NPHP3):c.406del (p.Thr136fs)]

NM_153240.5(NPHP3):c.406del (p.Thr136fs)

Genes:
NPHP3-ACAD11:NPHP3-ACAD11 readthrough (NMD candidate) [Gene - HGNC]
NPHP3:nephrocystin 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3q22.1
Genomic location:
Preferred name:
NM_153240.5(NPHP3):c.406del (p.Thr136fs)
HGVS:
  • NC_000003.12:g.132719823del
  • NG_008130.2:g.7615del
  • NM_153240.4:c.406delA
  • NM_153240.5:c.406delMANE SELECT
  • NP_694972.3:p.Thr136fs
  • NC_000003.11:g.132438662del
  • NC_000003.11:g.132438667del
  • NG_008130.1:g.7615del
  • NM_153240.4:c.406del
  • NR_037804.1:n.510del
Protein change:
T136fs
Links:
dbSNP: rs1379989124
NCBI 1000 Genomes Browser:
rs1379989124
Molecular consequence:
  • NM_153240.5:c.406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_037804.1:n.510del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

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
SCV000862944Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)
Pathogenic
(Aug 17, 2018)
germlineclinical testing

Citation Link,

SCV000927974Blueprint Genetics
criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)
Likely pathogenic
(Oct 5, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000862944.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Blueprint Genetics, SCV000927974.1

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

Last Updated: Jul 23, 2024