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NM_000901.5(NR3C2):c.2799+1G>A AND NR3C2-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 17, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004532127.2

Allele description [Variation Report for NM_000901.5(NR3C2):c.2799+1G>A]

NM_000901.5(NR3C2):c.2799+1G>A

Gene:
NR3C2:nuclear receptor subfamily 3 group C member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q31.23
Genomic location:
Preferred name:
NM_000901.5(NR3C2):c.2799+1G>A
HGVS:
  • NC_000004.12:g.148114103C>T
  • NG_013350.1:g.333419G>A
  • NG_013350.2:g.336405G>A
  • NM_000901.5:c.2799+1G>AMANE SELECT
  • NM_001166104.2:c.2448+1G>A
  • NM_001354819.1:c.2448+1G>A
  • NC_000004.11:g.149035254C>T
  • NM_000901.4:c.2799+1G>A
Molecular consequence:
  • NM_000901.5:c.2799+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001166104.2:c.2448+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354819.1:c.2448+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
NR3C2-related disorder
Synonyms:
NR3C2-Related Disorders; NR3C2-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004749515PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Nov 17, 2023) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004749515.2

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

Description

The NR3C2 c.2799+1G>A variant is predicted to disrupt the GT donor site and interfere with normal splicing. This variant has been reported in at least two families to be causative for autosomal dominant pseudohypoaldosteronism type I (Pujo et al 2007. PubMed ID: 16972228). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Variants that disrupt the consensus splice donor site in NR3C2 are expected to be pathogenic. This variant is interpreted as pathogenic.

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

Last Updated: Nov 10, 2024