NM_000044.6(AR):c.1823G>A (p.Arg608Gln) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 15, 2021
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:: RCV000806067.8

Allele description [Variation Report for NM_000044.6(AR):c.1823G>A (p.Arg608Gln)]

NM_000044.6(AR):c.1823G>A (p.Arg608Gln)

Gene:

AR:androgen receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq12

Genomic location:

Preferred name:

NM_000044.6(AR):c.1823G>A (p.Arg608Gln)

Other names:

R607Q

HGVS:

NC_000023.11:g.67686064G>A
NG_009014.2:g.147033G>A
NM_000044.6:c.1823G>AMANE SELECT
NM_001011645.3:c.227G>A
NM_001348061.1:c.1823G>A
NM_001348063.1:c.1823G>A
NM_001348064.1:c.*21G>A
NP_000035.2:p.Arg608Gln
NP_001011645.1:p.Arg76Gln
NP_001334990.1:p.Arg608Gln
NP_001334992.1:p.Arg608Gln
LRG_1406t1:c.1823G>A
LRG_1406:g.147033G>A
LRG_1406p1:p.Arg608Gln
NC_000023.10:g.66905906G>A
NM_000044.2:c.1823G>A
NM_000044.3:c.1823G>A
NM_000044.4:c.1823G>A
P10275:p.Arg608Gln

Protein change:

R608Q; ARG607GLN

Links:

UniProtKB: P10275#VAR_004684; OMIM: 313700.0016; dbSNP: rs137852573

NCBI 1000 Genomes Browser:

rs137852573

Molecular consequence:

NM_001348064.1:c.*21G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_000044.6:c.1823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001011645.3:c.227G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001348061.1:c.1823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001348063.1:c.1823G>A - 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

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000946047	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jul 15, 2021)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 1303262, 9543136, 10221692, 11788616, 32985417, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000946047

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jul 15, 2021)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

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

A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome.

Wooster R, Mangion J, Eeles R, Smith S, Dowsett M, Averill D, Barrett-Lee P, Easton DF, Ponder BA, Stratton MR.

Nat Genet. 1992 Oct;2(2):132-4.

PubMed [citation]

PMID:: 1303262

Response to androgen treatment in a patient with partial androgen insensitivity and a mutation in the deoxyribonucleic acid-binding domain of the androgen receptor.

Weidemann W, Peters B, Romalo G, Spindler KD, Schweikert HU.

J Clin Endocrinol Metab. 1998 Apr;83(4):1173-6.

PubMed [citation]

PMID:: 9543136

See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000946047.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 9820). This variant has been observed in individual(s) with androgen insensitivity syndrome (PMID: 1303262, 9543136, 10221692, 11788616, 32985417). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with glutamine at codon 608 of the AR protein (p.Arg608Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine.

#	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: Sep 29, 2024

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