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NM_000044.6(AR):c.2201A>G (p.Gln734Arg) AND Partial androgen insensitivity syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 25, 2024
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:
RCV003992120.1

Allele description [Variation Report for NM_000044.6(AR):c.2201A>G (p.Gln734Arg)]

NM_000044.6(AR):c.2201A>G (p.Gln734Arg)

Gene:
AR:androgen receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq12
Genomic location:
Preferred name:
NM_000044.6(AR):c.2201A>G (p.Gln734Arg)
HGVS:
  • NC_000023.11:g.67717505A>G
  • NG_009014.2:g.178474A>G
  • NM_000044.6:c.2201A>GMANE SELECT
  • NM_001011645.3:c.605A>G
  • NM_001424175.1:c.2204A>G
  • NP_000035.2:p.Gln734Arg
  • NP_001011645.1:p.Gln202Arg
  • NP_001411104.1:p.Gln735Arg
  • LRG_1406t1:c.2201A>G
  • LRG_1406:g.178474A>G
  • LRG_1406p1:p.Gln734Arg
  • NC_000023.10:g.66937347A>G
Protein change:
Q202R
Molecular consequence:
  • NM_000044.6:c.2201A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001011645.3:c.605A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001424175.1:c.2204A>G - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004812072Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 25, 2024) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot 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 Institute of Human Genetics, University of Leipzig Medical Center, SCV004812072.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Criteria applied: PM1,PM2_SUP,PM5_SUP,PP3

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

Last Updated: Apr 15, 2024