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NM_000176.3(NR3C1):c.1469-16G>T AND Glucocorticoid resistance

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 5, 2021
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:
RCV001788864.2

Allele description [Variation Report for NM_000176.3(NR3C1):c.1469-16G>T]

NM_000176.3(NR3C1):c.1469-16G>T

Gene:
NR3C1:nuclear receptor subfamily 3 group C member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.3
Genomic location:
Preferred name:
NM_000176.3(NR3C1):c.1469-16G>T
HGVS:
  • NC_000005.10:g.143300779C>A
  • NG_009062.1:g.139734G>T
  • NM_000176.3:c.1469-16G>TMANE SELECT
  • NM_001018074.1:c.1469-16G>T
  • NM_001018075.1:c.1469-16G>T
  • NM_001018076.2:c.1469-16G>T
  • NM_001018077.1:c.1469-16G>T
  • NM_001020825.2:c.1469-16G>T
  • NM_001024094.2:c.1472-16G>T
  • NM_001204258.2:c.1391-16G>T
  • NM_001204259.2:c.1214-16G>T
  • NM_001204260.2:c.1202-16G>T
  • NM_001204261.2:c.1178-16G>T
  • NM_001204262.2:c.524-16G>T
  • NM_001204263.2:c.479-16G>T
  • NM_001204264.2:c.464-16G>T
  • NM_001204265.2:c.1469-16G>T
  • NM_001364180.2:c.1469-16G>T
  • NM_001364181.2:c.1469-16G>T
  • NM_001364182.1:c.1469-16G>T
  • NM_001364183.2:c.1472-16G>T
  • NM_001364184.2:c.1472-16G>T
  • NM_001364185.1:c.1472-16G>T
  • NC_000005.9:g.142680344C>A
Links:
dbSNP: rs6188
NCBI 1000 Genomes Browser:
rs6188
Molecular consequence:
  • NM_000176.3:c.1469-16G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001018074.1:c.1469-16G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001018075.1:c.1469-16G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001018076.2:c.1469-16G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001018077.1:c.1469-16G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001020825.2:c.1469-16G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001024094.2:c.1472-16G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001204258.2:c.1391-16G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001204259.2:c.1214-16G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001204260.2:c.1202-16G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001204261.2:c.1178-16G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001204262.2:c.524-16G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001204263.2:c.479-16G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001204264.2:c.464-16G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001204265.2:c.1469-16G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364180.2:c.1469-16G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364181.2:c.1469-16G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364182.1:c.1469-16G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364183.2:c.1472-16G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364184.2:c.1472-16G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364185.1:c.1472-16G>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Glucocorticoid resistance
Synonyms:
Glucocorticoid resistance, generalized; Gccr deficiency; Glucocorticoid receptor deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0014421; MedGen: C1841972; Orphanet: 786; OMIM: 615962

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002029379Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Sep 5, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genome-Nilou Lab, SCV002029379.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024