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

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000447623	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Likely benign (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000447623

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Likely benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000447623.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 9, 2023

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