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NM_000044.6(AR):c.2222C>T (p.Ser741Phe) AND Androgen resistance syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 4, 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:
RCV004691403.1

Allele description [Variation Report for NM_000044.6(AR):c.2222C>T (p.Ser741Phe)]

NM_000044.6(AR):c.2222C>T (p.Ser741Phe)

Gene:
AR:androgen receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq12
Genomic location:
Preferred name:
NM_000044.6(AR):c.2222C>T (p.Ser741Phe)
HGVS:
  • NC_000023.11:g.67717526C>T
  • NG_009014.2:g.178495C>T
  • NM_000044.6:c.2222C>TMANE SELECT
  • NM_001011645.3:c.626C>T
  • NP_000035.2:p.Ser741Phe
  • NP_001011645.1:p.Ser209Phe
  • LRG_1406t1:c.2222C>T
  • LRG_1406:g.178495C>T
  • LRG_1406p1:p.Ser741Phe
  • NC_000023.10:g.66937368C>T
  • NM_000044.4:c.2222C>T
Protein change:
S209F
Links:
dbSNP: rs137852601
NCBI 1000 Genomes Browser:
rs137852601
Molecular consequence:
  • NM_000044.6:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001011645.3:c.626C>T - 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
SCV005187279Genetics Department, Polish Mother's Memorial Hospital Research Institute
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 4, 2024) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

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 Genetics Department, Polish Mother's Memorial Hospital Research Institute, SCV005187279.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

The patient is a 59-year-old phenotypically female with 46,XY karyotype, and typical symptoms of complete androgen insensitivity syndrome. The detected NM_000044.6:c.2222C>T p.(Ser741Phe) variant causes a missense change. The variant was absent in control chromosomes in populational databases. The in-silico tools predicted a pathogenic outcome for this variant. The variant has been reported in ClinVar as likely pathogenic and in LOVD as pathogenic. Another variant affecting the same amino acid position but resulting in a different missense (i.e., Ser741Cys) has been classified as pathogenic in ClinVar. The variant is localized in the hotspot region in the window of +/- 8 amino acids, where ten missense changes were described as pathogenic, three as uncertain, and none as benign or likely benign. The variant was classified as pathogenic with 10 ACMG points (criteria: PS4_moderate, PM1, PM2, PM5, PP3, PP4).

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

Last Updated: Aug 18, 2024