NM_000044.4(AR):c.2633C>G (p.Thr878Ser) AND Malignant tumor of prostate

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 25, 1995
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000010507.3

Allele description

NM_000044.4(AR):c.2633C>G (p.Thr878Ser)

Gene:

AR:androgen receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq12

Genomic location:

Preferred name:

NM_000044.4(AR):c.2633C>G (p.Thr878Ser)

HGVS:

NC_000023.11:g.67723711C>G
NG_009014.2:g.184680C>G
NM_000044.4:c.2633C>G
NM_001011645.3:c.1037C>G
NP_000035.2:p.Thr878Ser
NP_001011645.1:p.Thr346Ser
NC_000023.10:g.66943553C>G
NM_000044.3:c.2633C>G
NM_001011645.2:c.1037C>G
P10275:p.Thr878Ser

Protein change:

T346S; THR877SER

Links:

UniProtKB: P10275#VAR_009844; OMIM: 313700.0029; dbSNP: rs137852580

NCBI 1000 Genomes Browser:

rs137852580

Molecular consequence:

NM_000044.4:c.2633C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Malignant tumor of prostate
Synonyms:: Prostatic cancer; Prostate cancer
Identifiers:: MedGen: C0376358; Orphanet: 1331; OMIM: 176807; Human Phenotype Ontology: HP:0012125

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000030733	OMIM	no assertion criteria provided	Pathogenic (May 25, 1995)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 7723794, 6541981

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000030733

OMIM

no assertion criteria provided

Pathogenic
(May 25, 1995)

germline

literature only

PubMed (2)
[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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutation of the androgen-receptor gene in metastatic androgen-independent prostate cancer.

Taplin ME, Bubley GJ, Shuster TD, Frantz ME, Spooner AE, Ogata GK, Keer HN, Balk SP.

N Engl J Med. 1995 May 25;332(21):1393-8.

PubMed [citation]

PMID:: 7723794

Endocrine and genetic characterization of cousins with male pseudohermaphroditism: evidence that the Lubs phenotype can result from a mutation that alters the structure of the androgen receptor.

Wilson JD, Carlson BR, Weaver DD, Kovacs WJ, Griffin JE.

Clin Genet. 1984 Oct;26(4):363-70.

PubMed [citation]

PMID:: 6541981

Details of each submission

From OMIM, SCV000030733.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

Most metastatic androgen-independent prostate cancers express high levels of androgen-receptor gene transcripts. Taplin et al. (1995) identified point mutations in the AR gene in metastatic cells from 5 of 10 patients with prostate cancers in this category. One mutation, thr877-to-ser, was in the same codon as that found previously in the androgen-independent prostate cancer cell line (313700.0027). In 2 of the 5 patients, the mutations were not detected in the primary tumors. Functional studies of 2 of the mutant androgen receptors demonstrated that they could be activated by progesterone and estrogen. Four different mutations in the AR gene were identified in 1 tumor (313700.0033).

Wilson (1995) used the expression 'promiscuous receptor' to refer to the mutant receptor that, although losing its specificity for androgen, gains the ability to respond to hormones (estradiol and progesterone) that it would not ordinarily recognize. Under these circumstances, other hormones can play the part ordinarily reserved for androgen.

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

Last Updated: Jul 21, 2018

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