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NM_000044.6(AR):c.2123T>G (p.Leu708Arg) AND Androgen resistance syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 1996
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:
RCV000010511.5

Allele description [Variation Report for NM_000044.6(AR):c.2123T>G (p.Leu708Arg)]

NM_000044.6(AR):c.2123T>G (p.Leu708Arg)

Gene:
AR:androgen receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq12
Genomic location:
Preferred name:
NM_000044.6(AR):c.2123T>G (p.Leu708Arg)
Other names:
L707R
HGVS:
  • NC_000023.11:g.67711639T>G
  • NG_009014.2:g.172608T>G
  • NM_000044.6:c.2123T>GMANE SELECT
  • NM_001011645.3:c.527T>G
  • NP_000035.2:p.Leu708Arg
  • NP_001011645.1:p.Leu176Arg
  • LRG_1406t1:c.2123T>G
  • LRG_1406:g.172608T>G
  • LRG_1406p1:p.Leu708Arg
  • NC_000023.10:g.66931481T>G
  • P10275:p.Leu708Arg
Protein change:
L176R; LEU707ARG
Links:
UniProtKB: P10275#VAR_004694; OMIM: 313700.0034; dbSNP: rs137852585
NCBI 1000 Genomes Browser:
rs137852585
Molecular consequence:
  • NM_000044.6:c.2123T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001011645.3:c.527T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Androgen resistance syndrome (AIS)
Synonyms:
TESTICULAR FEMINIZATION SYNDROME; Androgen insensitivity syndrome; Androgen receptor deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0019154; MedGen: C0039585; Orphanet: 99429; OMIM: 300068

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000030737OMIM
no assertion criteria provided
Pathogenic
(May 1, 1996) 		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

A novel substitution (Leu707Arg) in exon 4 of the androgen receptor gene causes complete androgen resistance.

Lumbroso S, Lobaccaro JM, Georget V, Leger J, Poujol N, Térouanne B, Evain-Brion D, Czernichow P, Sultan C.

J Clin Endocrinol Metab. 1996 May;81(5):1984-8.

PubMed [citation]
PMID:
8626869

Details of each submission

From OMIM, SCV000030737.1

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

Description

Lumbroso et al. (1996) investigated the molecular basis of androgen resistance in a female newborn with complete testicular feminization (300068). Sequencing of the AR gene identified a point mutation in exon 4 responsible for a leucine (CTG)-to-arginine (CGG) replacement at codon 707. This mutation resides in the amino-terminal part of the ligand-binding domain of the AR. In vitro studies showed that the mutant AR was functionally deficient as an androgen-binding molecule. Further, its binding to DNA was reduced and it was unable to induce transcriptional activation of an androgen-responsive reporter gene.

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

Last Updated: Apr 23, 2022