NM_000044.6(AR):c.35del (p.Pro12fs) AND Androgen resistance syndrome

Germline classification:: Likely pathogenic (1 submission)
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:: RCV003985976.1

Allele description [Variation Report for NM_000044.6(AR):c.35del (p.Pro12fs)]

NM_000044.6(AR):c.35del (p.Pro12fs)

Gene:

AR:androgen receptor [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xq12

Genomic location:

Preferred name:

NM_000044.6(AR):c.35del (p.Pro12fs)

HGVS:

NC_000023.11:g.67545181del
NG_009014.2:g.6150del
NM_000044.6:c.35delMANE SELECT
NM_001011645.3:c.-1749del
NM_001348061.1:c.35del
NM_001348063.1:c.35del
NM_001348064.1:c.35del
NM_001424175.1:c.35delC
NP_000035.2:p.Pro12fs
NP_001334990.1:p.Pro12fs
NP_001334992.1:p.Pro12fs
NP_001334993.1:p.Pro12fs
NP_001411104.1:p.Pro12Leufs
LRG_1406t1:c.35del
LRG_1406:g.6150del
LRG_1406p1:p.Pro12fs
NC_000023.10:g.66765023del

Protein change:

P12fs

Molecular consequence:

NM_001011645.3:c.-1749del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000044.6:c.35del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348061.1:c.35del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348063.1:c.35del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348064.1:c.35del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001424175.1:c.35delC - frameshift variant - [Sequence Ontology: SO:0001589]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004801792	Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004801792

Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, SCV004801792.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

A previously undescribed nucleotide variant creates a frameshift p.Pro12LeufsTer22 in the AR gene. The variant was observed in hemizygous state in an individual affected with sex reversal. Loss-of-function variants are reported in patients with Androgen insensitivity, 300068. The variant is not present in population database (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as likely pathogenic.

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

Last Updated: Mar 30, 2024

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