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NM_000044.6(AR):c.1174C>T (p.Pro392Ser) AND Partial androgen insensitivity syndrome

Germline classification:
no classifications from unflagged records (1 submission)
Last evaluated:
Jan 25, 2024
Review status:
no classifications from unflagged records
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:
RCV000196772.10

Allele description [Variation Report for NM_000044.6(AR):c.1174C>T (p.Pro392Ser)]

NM_000044.6(AR):c.1174C>T (p.Pro392Ser)

Gene:
AR:androgen receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq12
Genomic location:
Preferred name:
NM_000044.6(AR):c.1174C>T (p.Pro392Ser)
HGVS:
  • NC_000023.11:g.67546320C>T
  • NG_009014.2:g.7289C>T
  • NM_000044.6:c.1174C>TMANE SELECT
  • NM_001011645.3:c.-610C>T
  • NM_001348061.1:c.1174C>T
  • NM_001348063.1:c.1174C>T
  • NM_001348064.1:c.1174C>T
  • NP_000035.2:p.Pro392Ser
  • NP_001334990.1:p.Pro392Ser
  • NP_001334992.1:p.Pro392Ser
  • NP_001334993.1:p.Pro392Ser
  • LRG_1406t1:c.1174C>T
  • LRG_1406:g.7289C>T
  • LRG_1406p1:p.Pro392Ser
  • NC_000023.10:g.66766162C>T
  • NM_000044.3:c.1174C>T
  • NM_000044.4:c.1174C>T
  • P10275:p.Pro392Ser
  • p.P392S
Protein change:
P392S
Links:
UniProtKB: P10275#VAR_009227; dbSNP: rs201934623
NCBI 1000 Genomes Browser:
rs201934623
Molecular consequence:
  • NM_001011645.3:c.-610C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000044.6:c.1174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348061.1:c.1174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348063.1:c.1174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348064.1:c.1174C>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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Assertion and evidence details

Help
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF.

JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604.

PubMed [citation]
PMID:
25326637
PMCID:
PMC4278636

Details of each submission

From UCLA Clinical Genomics Center, UCLA - CES, SCV000255325.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000255325UCLA Clinical Genomics Center, UCLA - CES
flagged submission
Reason: Outlier claim with insufficient supporting evidence
Notes: None

(Lee et al. (JAMA. 2014))		Pathogenic
(Jul 1, 2014) 		unknownclinical testing

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

Last Updated: Oct 13, 2024