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NM_000176.3(NR3C1):c.2259A>T (p.Leu753Phe) AND Glucocorticoid resistance, cellular

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 1993
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:
RCV000017531.24

Allele description [Variation Report for NM_000176.3(NR3C1):c.2259A>T (p.Leu753Phe)]

NM_000176.3(NR3C1):c.2259A>T (p.Leu753Phe)

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.2259A>T (p.Leu753Phe)
HGVS:
  • NC_000005.10:g.143281964T>A
  • NG_009062.1:g.158549A>T
  • NM_000176.3:c.2259A>TMANE SELECT
  • NM_001018074.1:c.2259A>T
  • NM_001018075.1:c.2259A>T
  • NM_001018076.2:c.2259A>T
  • NM_001018077.1:c.2259A>T
  • NM_001020825.2:c.2181+604A>T
  • NM_001024094.2:c.2262A>T
  • NM_001204258.2:c.2181A>T
  • NM_001204259.2:c.2004A>T
  • NM_001204260.2:c.1992A>T
  • NM_001204261.2:c.1968A>T
  • NM_001204262.2:c.1314A>T
  • NM_001204263.2:c.1269A>T
  • NM_001204264.2:c.1254A>T
  • NM_001364180.2:c.2259A>T
  • NM_001364181.2:c.2259A>T
  • NM_001364182.1:c.2259A>T
  • NM_001364183.2:c.2262A>T
  • NM_001364184.2:c.2262A>T
  • NM_001364185.1:c.2262A>T
  • NP_000167.1:p.Leu753Phe
  • NP_001018084.1:p.Leu753Phe
  • NP_001018085.1:p.Leu753Phe
  • NP_001018086.1:p.Leu753Phe
  • NP_001018087.1:p.Leu753Phe
  • NP_001019265.1:p.Leu754Phe
  • NP_001191187.1:p.Leu727Phe
  • NP_001191188.1:p.Leu668Phe
  • NP_001191189.1:p.Leu664Phe
  • NP_001191190.1:p.Leu656Phe
  • NP_001191191.1:p.Leu438Phe
  • NP_001191192.1:p.Leu423Phe
  • NP_001191193.1:p.Leu418Phe
  • NP_001351109.1:p.Leu753Phe
  • NP_001351110.1:p.Leu753Phe
  • NP_001351111.1:p.Leu753Phe
  • NP_001351112.1:p.Leu754Phe
  • NP_001351113.1:p.Leu754Phe
  • NP_001351114.1:p.Leu754Phe
  • NC_000005.9:g.142661529T>A
  • NR_157096.2:n.1182A>T
  • P04150:p.Leu753Phe
Protein change:
L418F; LEU753PHE
Links:
UniProtKB: P04150#VAR_004678; OMIM: 138040.0003; dbSNP: rs121909726
NCBI 1000 Genomes Browser:
rs121909726
Molecular consequence:
  • NM_001020825.2:c.2181+604A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000176.3:c.2259A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018074.1:c.2259A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018075.1:c.2259A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018076.2:c.2259A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018077.1:c.2259A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001024094.2:c.2262A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204258.2:c.2181A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204259.2:c.2004A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204260.2:c.1992A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204261.2:c.1968A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204262.2:c.1314A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204263.2:c.1269A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204264.2:c.1254A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364180.2:c.2259A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364181.2:c.2259A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364182.1:c.2259A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364183.2:c.2262A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364184.2:c.2262A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364185.1:c.2262A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_157096.2:n.1182A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Glucocorticoid resistance, cellular
Identifiers:
MedGen: C4016112

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000037803OMIM
no assertion criteria provided
Pathogenic
(May 1, 1993) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Details of each submission

From OMIM, SCV000037803.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Ashraf and Thompson (1993) showed that 2 glucocorticoid-resistant cell lines were hemizygous for a leu753-to-phe mutation in the NR3C1 gene. Both were derived from a wildtype cell line heterozygous for this mutation; the resistant cell lines had suffered the loss of the normal allele.

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

Last Updated: Apr 23, 2022