NM_000044.3(AR):c.1826G>A (p.Arg609Lys) AND Androgen insensitivity, partial, with breast cancer

Clinical significance:Pathogenic (Last evaluated: Nov 1, 1993)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_000044.3(AR):c.1826G>A (p.Arg609Lys)]

NM_000044.3(AR):c.1826G>A (p.Arg609Lys)

AR:androgen receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000044.3(AR):c.1826G>A (p.Arg609Lys)
  • NC_000023.11:g.67686067G>A
  • NG_009014.2:g.147036G>A
  • NM_000044.3:c.1826G>A
  • NM_001011645.2:c.230G>A
  • NP_000035.2:p.Arg609Lys
  • NP_001011645.1:p.Arg77Lys
  • NC_000023.10:g.66905909G>A
Protein change:
R608K; ARG608LYS
OMIM: 313700.0024; dbSNP: 137852576
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000044.3:c.1826G>A - missense variant - [Sequence Ontology: SO:0001583]


Androgen insensitivity, partial, with breast cancer
MedGen: C4016581

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000030728OMIMno assertion criteria providedPathogenic
(Nov 1, 1993)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only



Androgen receptor gene mutation in male breast cancer.

Lobaccaro JM, Lumbroso S, Belon C, Galtier-Dereure F, Bringer J, Lesimple T, Namer M, Cutuli BF, Pujol H, Sultan C.

Hum Mol Genet. 1993 Nov;2(11):1799-802.

PubMed [citation]

Details of each submission

From OMIM, SCV000030728.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)


In 1 of 13 cases of male breast cancer, Lobaccaro et al. (1993) found by single-strand conformation polymorphism and direct sequencing a G-to-A transition at nucleotide 2185 that changed arginine-608 into lysine in a highly conserved region of the second zinc finger of the androgen receptor. The patient was a 38-year-old man with partial androgen insensitivity and normal androgen-binding capacity in cultured genital skin fibroblasts. The authors noted the previously reported arg607-to-gln mutation (313700.0016). They concluded that the genetic abnormality was not fortuitous. A decrease in androgen action within breast cells could account for the development of male breast cancer by the loss of a protective effect of androgens on these cells. Activation of estrogen-regulated genes by change in the DNA-binding characteristics of the mutant androgen receptor could not, however, be ruled out. The patient in this case had markedly ambiguous genitalia (micropenis, hypospadias, and bifid scrotum) associated with bilateral gynecomastia.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 3, 2016