NM_000044.6(AR):c.292C>T (p.Gln98Ter) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 20, 2016
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:: RCV000529989.1

Allele description [Variation Report for NM_000044.6(AR):c.292C>T (p.Gln98Ter)]

NM_000044.6(AR):c.292C>T (p.Gln98Ter)

Gene:

AR:androgen receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq12

Genomic location:

Preferred name:

NM_000044.6(AR):c.292C>T (p.Gln98Ter)

HGVS:

NC_000023.11:g.67545438C>T
NG_009014.2:g.6407C>T
NG_052629.1:g.222C>T
NM_000044.6:c.292C>TMANE SELECT
NM_001011645.3:c.-1492C>T
NM_001348061.1:c.292C>T
NM_001348063.1:c.292C>T
NM_001348064.1:c.292C>T
NP_000035.2:p.Gln98Ter
NP_001334990.1:p.Gln98Ter
NP_001334992.1:p.Gln98Ter
NP_001334993.1:p.Gln98Ter
LRG_1406t1:c.292C>T
LRG_1406:g.6407C>T
LRG_1406p1:p.Gln98Ter
NC_000023.10:g.66765280C>T
NM_000044.3:c.292C>T

Protein change:

Q98*

Links:

dbSNP: rs1555969553

NCBI 1000 Genomes Browser:

rs1555969553

Molecular consequence:

NM_001011645.3:c.-1492C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000044.6:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001348061.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001348063.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001348064.1:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]

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

Name:: Kennedy disease (SMAX1)
Synonyms:: SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; Bulbo-spinal atrophy X-linked; Kennedy spinal and bulbar muscular atrophy; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010735; MedGen: C1839259; Orphanet: 481; OMIM: 313200

Recent activity

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ubiquitin-related protein 3 [Arabidopsis thaliana]
ubiquitin-related protein 3 [Arabidopsis thaliana]
gi|15221154|ref|NP_172662.1|

Protein
Protein kinase superfamily protein [Arabidopsis thaliana]
Protein kinase superfamily protein [Arabidopsis thaliana]
gi|15229823|ref|NP_189981.1|

Protein
5327513[uid] AND (alive[prop]) (1)
Gene
MAEO_RS06050 [Methanococcus aeolicus Nankai-3]
MAEO_RS06050 [Methanococcus aeolicus Nankai-3]
Gene ID:5327513

Gene
Gm47441 AND (alive[prop]) (0)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000639458	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jul 20, 2016)	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

SCV000639458

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jul 20, 2016)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV000639458.1

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

Description

This sequence change creates a premature translational stop signal at codon 98 (p.Gln98*) of the AR gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in AR are known to be pathogenic (PMID: 19463997). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Dec 3, 2022

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