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NM_000044.6(AR):c.2567G>A (p.Arg856His) AND Partial androgen insensitivity syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 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:
RCV000010497.4

Allele description

NM_000044.6(AR):c.2567G>A (p.Arg856His)

Gene:
AR:androgen receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq12
Genomic location:
Preferred name:
NM_000044.6(AR):c.2567G>A (p.Arg856His)
Other names:
R855H; R846H
HGVS:
  • NC_000023.11:g.67722944G>A
  • NG_009014.2:g.183913G>A
  • NM_000044.6:c.2567G>AMANE SELECT
  • NM_001011645.3:c.971G>A
  • NP_000035.2:p.Arg856His
  • NP_000035.2:p.Arg856His
  • NP_001011645.1:p.Arg324His
  • LRG_1406t1:c.2567G>A
  • LRG_1406:g.183913G>A
  • LRG_1406p1:p.Arg856His
  • NC_000023.10:g.66942786G>A
  • NM_000044.3:c.2567G>A
  • NM_000044.4:c.2567G>A
  • P10275:p.Arg856His
Protein change:
R324H; ARG846HIS
Links:
UniProtKB: P10275#VAR_004726; OMIM: 313700.0019; OMIM: 313700.0040; dbSNP: rs9332971
NCBI 1000 Genomes Browser:
rs9332971
Molecular consequence:
  • NM_000044.6:c.2567G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001011645.3:c.971G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Partial androgen insensitivity syndrome (PAIS)
Synonyms:
ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER; FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 1; Gynecomastia, familial; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010720; MedGen: C0268301; Orphanet: 90797; OMIM: 312300

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000030723OMIM
no assertion criteria provided
Pathogenic
(Mar 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

Mutations of the androgen receptor gene identified in perineal hypospadias.

Batch JA, Evans BA, Hughes IA, Patterson MN.

J Med Genet. 1993 Mar;30(3):198-201.

PubMed [citation]
PMID:
8097257
PMCID:
PMC1016298

Details of each submission

From OMIM, SCV000030723.1

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

Description

In 2 Kuwaiti brothers, born to nonconsanguineous parents, who presented in the neonatal period with severe perineal hypospadias, bilateral cryptorchidism, and micropenis, Batch et al. (1993) found a G-to-A change in exon G of the AR gene which caused an arg-to-his substitution at amino acid 855. The 2 boys had 46,XY karyotypes and showed normal testosterone biosynthesis and metabolism. Both showed a qualitative defect in androgen binding (see 312300), suggesting that the androgen receptor was defective.

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

Last Updated: Jun 18, 2022