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NM_000901.5(NR3C2):c.*1726_*1729dup AND Autosomal dominant pseudohypoaldosteronism type 1

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000291913.5

Allele description [Variation Report for NM_000901.5(NR3C2):c.*1726_*1729dup]

NM_000901.5(NR3C2):c.*1726_*1729dup

Gene:
NR3C2:nuclear receptor subfamily 3 group C member 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
4q31.23
Genomic location:
Preferred name:
NM_000901.5(NR3C2):c.*1726_*1729dup
HGVS:
  • NC_000004.12:g.148079616_148079619dup
  • NG_013350.1:g.367904_367907dup
  • NM_000901.5:c.*1726_*1729dupMANE SELECT
  • NM_001166104.2:c.*1726_*1729dup
  • NM_001354819.1:c.*1726_*1729dup
  • NC_000004.11:g.149000767_149000770dup
  • NM_000901.4:c.*1726_*1729dupATCT
  • NR_148974.2:n.4442_4445dup
Links:
dbSNP: rs199601327
NCBI 1000 Genomes Browser:
rs199601327
Molecular consequence:
  • NM_000901.5:c.*1726_*1729dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001166104.2:c.*1726_*1729dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001354819.1:c.*1726_*1729dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NR_148974.2:n.4442_4445dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Autosomal dominant pseudohypoaldosteronism type 1
Synonyms:
Pseudohypoaldosteronism, Type I, Autosomal Dominant; PHA I, AUTOSOMAL DOMINANT; Pseudohypoaldosteronism, Type I, Dominant
Identifiers:
MONDO: MONDO:0008329; MedGen: C1449842; Orphanet: 171871; Orphanet: 756; OMIM: 177735

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000447623Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Likely benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000447623.2

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

Last Updated: Apr 9, 2023