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NM_153240.5(NPHP3):c.634dup (p.Glu212fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 5, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000597690.5

Allele description [Variation Report for NM_153240.5(NPHP3):c.634dup (p.Glu212fs)]

NM_153240.5(NPHP3):c.634dup (p.Glu212fs)

Genes:
NPHP3-ACAD11:NPHP3-ACAD11 readthrough (NMD candidate) [Gene - HGNC]
NPHP3:nephrocystin 3 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3q22.1
Genomic location:
Preferred name:
NM_153240.5(NPHP3):c.634dup (p.Glu212fs)
HGVS:
  • NC_000003.12:g.132719033dup
  • NG_008130.2:g.8403dup
  • NM_153240.5:c.634dupMANE SELECT
  • NP_694972.3:p.Glu212fs
  • NC_000003.11:g.132437873_132437874insC
  • NC_000003.11:g.132437877dup
  • NG_008130.1:g.8403dup
  • NM_153240.4:c.634dup
  • NR_037804.1:n.738dup
Protein change:
E212fs
Links:
dbSNP: rs747052534
NCBI 1000 Genomes Browser:
rs747052534
Molecular consequence:
  • NM_153240.5:c.634dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_037804.1:n.738dup - 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
SCV000707032Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)
Pathogenic
(Jul 5, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000707032.2

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

Last Updated: May 12, 2024