NM_000044.6(AR):c.2231G>T (p.Gly744Val) AND Partial androgen insensitivity syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 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:: RCV000010531.3

Allele description [Variation Report for NM_000044.6(AR):c.2231G>T (p.Gly744Val)]

NM_000044.6(AR):c.2231G>T (p.Gly744Val)

Gene:

AR:androgen receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq12

Genomic location:

Preferred name:

NM_000044.6(AR):c.2231G>T (p.Gly744Val)

Other names:

G743V

HGVS:

NC_000023.11:g.67717535G>T
NG_009014.2:g.178504G>T
NM_000044.6:c.2231G>TMANE SELECT
NM_001011645.3:c.635G>T
NP_000035.2:p.Gly744Val
NP_001011645.1:p.Gly212Val
LRG_1406t1:c.2231G>T
LRG_1406:g.178504G>T
LRG_1406p1:p.Gly744Val
NC_000023.10:g.66937377G>T
P10275:p.Gly744Val

Protein change:

G212V; GLY743VAL

Links:

UniProtKB: P10275#VAR_004699; OMIM: 313700.0056; dbSNP: rs137852600

NCBI 1000 Genomes Browser:

rs137852600

Molecular consequence:

NM_000044.6:c.2231G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001011645.3:c.635G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Partial androgen insensitivity syndrome (PAIS)
Synonyms:: ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER; Gynecomastia, familial; Pseudohermaphroditism, Incomplete male, type I; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010720; MedGen: C0268301; Orphanet: 90797; OMIM: 312300

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000030757	OMIM	no assertion criteria provided	Pathogenic (Jul 1, 1993)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 8325932, 8096390

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000030757

OMIM

no assertion criteria provided

Pathogenic
(Jul 1, 1993)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A single amino acid substitution (gly743 --> val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome.

Nakao R, Yanase T, Sakai Y, Haji M, Nawata H.

J Clin Endocrinol Metab. 1993 Jul;77(1):103-7.

PubMed [citation]

PMID:: 8325932

Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism.

Lobaccaro JM, Lumbroso S, Berta P, Chaussain JL, Sultan C.

J Steroid Biochem Mol Biol. 1993 Mar;44(3):211-6.

PubMed [citation]

PMID:: 8096390

Details of each submission

From OMIM, SCV000030757.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

Nakao et al. (1993) found a gly743-to-val (G743V) substitution in the androgen receptor in a 20-year-old male with partial androgen insensitivity syndrome (312300) manifesting gynecomastia, hypospadias, microphallus, absent pubic hair, and palpable mammary glands. The amino acid substitution arose from a G-to-T transversion in exon 5 of the AR gene.

Lobaccaro et al. (1993) found this mutation de novo in a French child with complete androgen insensitivity syndrome (300068) and negative receptor binding. They noted that the G743V change is in the hormone binding domain.

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

Last Updated: Mar 5, 2024

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