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NM_153240.5(NPHP3):c.1189C>T (p.Arg397Cys) AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 20, 2020
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:
RCV001704114.9

Allele description [Variation Report for NM_153240.5(NPHP3):c.1189C>T (p.Arg397Cys)]

NM_153240.5(NPHP3):c.1189C>T (p.Arg397Cys)

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.1189C>T (p.Arg397Cys)
HGVS:
  • NC_000003.12:g.132708187G>A
  • NG_008130.2:g.19246C>T
  • NM_153240.5:c.1189C>TMANE SELECT
  • NP_694972.3:p.Arg397Cys
  • NC_000003.11:g.132427031G>A
  • NG_008130.1:g.19246C>T
  • NM_153240.4:c.1189C>T
  • NR_037804.1:n.1293C>T
Protein change:
R397C
Links:
dbSNP: rs141477666
NCBI 1000 Genomes Browser:
rs141477666
Molecular consequence:
  • NM_153240.5:c.1189C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_037804.1:n.1293C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000566586GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Nov 20, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000566586.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is associated with the following publications: (PMID: 27392076, 17855640, 23188109)

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

Last Updated: Jul 7, 2024