U.S. flag

An official website of the United States government

NC_000015.10:g.(51338597_?)_(?_57376504)inv AND Aromatase excess syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 8, 2003
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:
RCV000019402.27

Allele description [Variation Report for NC_000015.10:g.(51338597_?)_(?_57376504)inv]

NC_000015.10:g.(51338597_?)_(?_57376504)inv

Genes:
  • LOC130057052:ATAC-STARR-seq lymphoblastoid active region 9404 [Gene]
  • LOC130057055:ATAC-STARR-seq lymphoblastoid active region 9405 [Gene]
  • LOC130057056:ATAC-STARR-seq lymphoblastoid active region 9406 [Gene]
  • LOC130057061:ATAC-STARR-seq lymphoblastoid active region 9407 [Gene]
  • LOC130057066:ATAC-STARR-seq lymphoblastoid active region 9408 [Gene]
  • LOC130057067:ATAC-STARR-seq lymphoblastoid active region 9409 [Gene]
  • LOC130057068:ATAC-STARR-seq lymphoblastoid active region 9411 [Gene]
  • LOC130057069:ATAC-STARR-seq lymphoblastoid active region 9412 [Gene]
  • LOC130057070:ATAC-STARR-seq lymphoblastoid active region 9413 [Gene]
  • LOC130057071:ATAC-STARR-seq lymphoblastoid active region 9414 [Gene]
  • LOC130057074:ATAC-STARR-seq lymphoblastoid active region 9415 [Gene]
  • LOC130057075:ATAC-STARR-seq lymphoblastoid active region 9416 [Gene]
  • LOC130057076:ATAC-STARR-seq lymphoblastoid active region 9417 [Gene]
  • LOC130057077:ATAC-STARR-seq lymphoblastoid active region 9419 [Gene]
  • LOC130057078:ATAC-STARR-seq lymphoblastoid active region 9420 [Gene]
  • LOC130057079:ATAC-STARR-seq lymphoblastoid active region 9421 [Gene]
  • LOC130057080:ATAC-STARR-seq lymphoblastoid active region 9422 [Gene]
  • LOC130057082:ATAC-STARR-seq lymphoblastoid active region 9423 [Gene]
  • LOC130057084:ATAC-STARR-seq lymphoblastoid active region 9425 [Gene]
  • LOC130057086:ATAC-STARR-seq lymphoblastoid active region 9426 [Gene]
  • LOC130057087:ATAC-STARR-seq lymphoblastoid active region 9427 [Gene]
  • LOC130057088:ATAC-STARR-seq lymphoblastoid active region 9428 [Gene]
  • LOC130057089:ATAC-STARR-seq lymphoblastoid active region 9429 [Gene]
  • LOC130057091:ATAC-STARR-seq lymphoblastoid active region 9432 [Gene]
  • LOC130057092:ATAC-STARR-seq lymphoblastoid active region 9433 [Gene]
  • LOC130057093:ATAC-STARR-seq lymphoblastoid active region 9434 [Gene]
  • LOC130057094:ATAC-STARR-seq lymphoblastoid active region 9435 [Gene]
  • LOC130057095:ATAC-STARR-seq lymphoblastoid active region 9436 [Gene]
  • LOC130057097:ATAC-STARR-seq lymphoblastoid active region 9437 [Gene]
  • LOC130057099:ATAC-STARR-seq lymphoblastoid active region 9439 [Gene]
  • LOC130057101:ATAC-STARR-seq lymphoblastoid active region 9440 [Gene]
  • LOC130057102:ATAC-STARR-seq lymphoblastoid active region 9441 [Gene]
  • LOC130057103:ATAC-STARR-seq lymphoblastoid active region 9442 [Gene]
  • LOC130057104:ATAC-STARR-seq lymphoblastoid active region 9443 [Gene]
  • LOC130057105:ATAC-STARR-seq lymphoblastoid active region 9444 [Gene]
  • LOC130057106:ATAC-STARR-seq lymphoblastoid active region 9445 [Gene]
  • LOC130057107:ATAC-STARR-seq lymphoblastoid active region 9446 [Gene]
  • LOC130057108:ATAC-STARR-seq lymphoblastoid active region 9447 [Gene]
  • LOC130057109:ATAC-STARR-seq lymphoblastoid active region 9448 [Gene]
  • LOC130057113:ATAC-STARR-seq lymphoblastoid active region 9449 [Gene]
  • LOC130057117:ATAC-STARR-seq lymphoblastoid active region 9451 [Gene]
  • LOC130057118:ATAC-STARR-seq lymphoblastoid active region 9452 [Gene]
  • LOC130057119:ATAC-STARR-seq lymphoblastoid active region 9453 [Gene]
  • LOC130057120:ATAC-STARR-seq lymphoblastoid active region 9454 [Gene]
  • LOC130057122:ATAC-STARR-seq lymphoblastoid active region 9455 [Gene]
  • LOC130057123:ATAC-STARR-seq lymphoblastoid active region 9456 [Gene]
  • LOC130057125:ATAC-STARR-seq lymphoblastoid active region 9457 [Gene]
  • LOC130057132:ATAC-STARR-seq lymphoblastoid active region 9458 [Gene]
  • LOC130057133:ATAC-STARR-seq lymphoblastoid active region 9459 [Gene]
  • LOC130057134:ATAC-STARR-seq lymphoblastoid active region 9460 [Gene]
  • LOC130057053:ATAC-STARR-seq lymphoblastoid silent region 6432 [Gene]
  • LOC130057054:ATAC-STARR-seq lymphoblastoid silent region 6433 [Gene]
  • LOC130057057:ATAC-STARR-seq lymphoblastoid silent region 6434 [Gene]
  • LOC130057058:ATAC-STARR-seq lymphoblastoid silent region 6435 [Gene]
  • LOC130057059:ATAC-STARR-seq lymphoblastoid silent region 6436 [Gene]
  • LOC130057060:ATAC-STARR-seq lymphoblastoid silent region 6437 [Gene]
  • LOC130057062:ATAC-STARR-seq lymphoblastoid silent region 6438 [Gene]
  • LOC130057063:ATAC-STARR-seq lymphoblastoid silent region 6439 [Gene]
  • LOC130057064:ATAC-STARR-seq lymphoblastoid silent region 6440 [Gene]
  • LOC130057065:ATAC-STARR-seq lymphoblastoid silent region 6441 [Gene]
  • LOC130057072:ATAC-STARR-seq lymphoblastoid silent region 6442 [Gene]
  • LOC130057073:ATAC-STARR-seq lymphoblastoid silent region 6443 [Gene]
  • LOC130057081:ATAC-STARR-seq lymphoblastoid silent region 6444 [Gene]
  • LOC130057083:ATAC-STARR-seq lymphoblastoid silent region 6445 [Gene]
  • LOC130057085:ATAC-STARR-seq lymphoblastoid silent region 6446 [Gene]
  • LOC130057090:ATAC-STARR-seq lymphoblastoid silent region 6447 [Gene]
  • LOC130057096:ATAC-STARR-seq lymphoblastoid silent region 6450 [Gene]
  • LOC130057098:ATAC-STARR-seq lymphoblastoid silent region 6452 [Gene]
  • LOC130057100:ATAC-STARR-seq lymphoblastoid silent region 6453 [Gene]
  • LOC130057110:ATAC-STARR-seq lymphoblastoid silent region 6454 [Gene]
  • LOC130057111:ATAC-STARR-seq lymphoblastoid silent region 6455 [Gene]
  • LOC130057112:ATAC-STARR-seq lymphoblastoid silent region 6456 [Gene]
  • LOC130057114:ATAC-STARR-seq lymphoblastoid silent region 6460 [Gene]
  • LOC130057115:ATAC-STARR-seq lymphoblastoid silent region 6461 [Gene]
  • LOC130057116:ATAC-STARR-seq lymphoblastoid silent region 6462 [Gene]
  • LOC130057121:ATAC-STARR-seq lymphoblastoid silent region 6465 [Gene]
  • LOC130057124:ATAC-STARR-seq lymphoblastoid silent region 6466 [Gene]
  • LOC130057126:ATAC-STARR-seq lymphoblastoid silent region 6467 [Gene]
  • LOC130057127:ATAC-STARR-seq lymphoblastoid silent region 6468 [Gene]
  • LOC130057128:ATAC-STARR-seq lymphoblastoid silent region 6469 [Gene]
  • LOC130057129:ATAC-STARR-seq lymphoblastoid silent region 6470 [Gene]
  • LOC130057130:ATAC-STARR-seq lymphoblastoid silent region 6471 [Gene]
  • LOC130057131:ATAC-STARR-seq lymphoblastoid silent region 6472 [Gene]
  • BCL2L10:BCL2 like 10 [Gene - OMIM - HGNC]
  • LOC126862136:BRD4-independent group 4 enhancer GRCh37_chr15:56332364-56333563 [Gene]
  • LOC126862134:CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:54240389-54241588 [Gene]
  • LOC116268465:CRISPRi-validated cis-regulatory element chr15.1149 [Gene]
  • LOC116268466:CRISPRi-validated cis-regulatory element chr15.1151 [Gene]
  • LOC110386947:CYP19A1 promoter I.1 [Gene]
  • DNAAF4-CCPG1:DNAAF4-CCPG1 readthrough (NMD candidate) [Gene - HGNC]
  • DMXL2:Dmx like 2 [Gene - OMIM - HGNC]
  • GNB5:G protein subunit beta 5 [Gene - OMIM - HGNC]
  • LEO1:LEO1 homolog, Paf1/RNA polymerase II complex component [Gene - OMIM - HGNC]
  • LYSMD2:LysM domain containing 2 [Gene - HGNC]
  • MAPK6-DT:MAPK6 divergent transcript [Gene - HGNC]
  • LOC108281154:MAPK6-RPS13P8 intergenic CAGE-defined mid-level expression enhancer [Gene]
  • LOC126862131:MED14-independent group 3 enhancer GRCh37_chr15:51741640-51742839 [Gene]
  • LOC126862132:MED14-independent group 3 enhancer GRCh37_chr15:53599743-53600942 [Gene]
  • LOC126862135:MED14-independent group 3 enhancer GRCh37_chr15:54886172-54887371 [Gene]
  • LOC129390703:MPRA-validated peak2338 silencer [Gene]
  • LOC129390704:MPRA-validated peak2339 silencer [Gene]
  • LOC129390705:MPRA-validated peak2347 silencer [Gene]
  • LOC129390706:MPRA-validated peak2351 silencer [Gene]
  • LOC129390707:MPRA-validated peak2352 silencer [Gene]
  • NEDD4:NEDD4 E3 ubiquitin protein ligase [Gene - OMIM - HGNC]
  • LOC108281179:NEDD4 intron nontranscribed DNase I hypersensitive site-defined enhancer [Gene]
  • LOC132090303:Neanderthal introgressed variant-containing enhancer experimental_39634 [Gene]
  • LOC132090304:Neanderthal introgressed variant-containing enhancer experimental_39679 [Gene]
  • LOC132090305:Neanderthal introgressed variant-containing enhancer experimental_39709 [Gene]
  • LOC132090306:Neanderthal introgressed variant-containing enhancer experimental_39732 [Gene]
  • LOC132090307:Neanderthal introgressed variant-containing enhancer experimental_39766 [Gene]
  • LOC132090879:Neanderthal introgressed variant-containing enhancer experimental_39776 [Gene]
  • LOC132090308:Neanderthal introgressed variant-containing enhancer experimental_39831 [Gene]
  • LOC132090309:Neanderthal introgressed variant-containing enhancer experimental_39945 [Gene]
  • LOC132090310:Neanderthal introgressed variant-containing enhancer experimental_39975 [Gene]
  • LOC132090880:Neanderthal introgressed variant-containing enhancer experimental_40016 [Gene]
  • LOC132090311:Neanderthal introgressed variant-containing enhancer experimental_40047 [Gene]
  • LOC132090312:Neanderthal introgressed variant-containing enhancer experimental_40093 [Gene]
  • LOC132090313:Neanderthal introgressed variant-containing enhancer experimental_40111 [Gene]
  • LOC132090314:Neanderthal introgressed variant-containing enhancer experimental_40125 [Gene]
  • LOC132090315:Neanderthal introgressed variant-containing enhancer experimental_40127 [Gene]
  • LOC132090316:Neanderthal introgressed variant-containing enhancer experimental_40151 [Gene]
  • LOC132090317:Neanderthal introgressed variant-containing enhancer experimental_40173 [Gene]
  • LOC132090318:Neanderthal introgressed variant-containing enhancer experimental_40335 [Gene]
  • LOC132090319:Neanderthal introgressed variant-containing enhancer experimental_40373 [Gene]
  • LOC132090320:Neanderthal introgressed variant-containing enhancer experimental_40379 [Gene]
  • LOC132090321:Neanderthal introgressed variant-containing enhancer experimental_40384 [Gene]
  • LOC126862133:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:54127299-54128498 [Gene]
  • PIGBOS1:PIGB opposite strand 1 [Gene - OMIM - HGNC]
  • RAB27A:RAB27A, member RAS oncogene family [Gene - OMIM - HGNC]
  • LOC121847949:Sharpr-MPRA regulatory region 1269 [Gene]
  • LOC121530581:Sharpr-MPRA regulatory region 12802 [Gene]
  • LOC112272596:Sharpr-MPRA regulatory region 13260 [Gene]
  • LOC121530582:Sharpr-MPRA regulatory region 14256 [Gene]
  • LOC121530584:Sharpr-MPRA regulatory region 15328 [Gene]
  • LOC125078083:Sharpr-MPRA regulatory region 1757 [Gene]
  • LOC121847950:Sharpr-MPRA regulatory region 217 [Gene]
  • LOC125078082:Sharpr-MPRA regulatory region 2235 [Gene]
  • LOC125078080:Sharpr-MPRA regulatory region 2333 [Gene]
  • LOC112272597:Sharpr-MPRA regulatory region 6285 [Gene]
  • LOC121530583:Sharpr-MPRA regulatory region 6559 [Gene]
  • LOC125078081:Sharpr-MPRA regulatory region 7002 [Gene]
  • TCF12-DT:TCF12 divergent transcript [Gene - HGNC]
  • LOC110120859:VISTA enhancer hs357 [Gene]
  • LOC110120911:VISTA enhancer hs623 [Gene]
  • WDR72:WD repeat domain 72 [Gene - OMIM - HGNC]
  • ATOSA:atos homolog A [Gene - OMIM - HGNC]
  • ARPP19:cAMP regulated phosphoprotein 19 [Gene - OMIM - HGNC]
  • CCPG1:cell cycle progression 1 [Gene - OMIM - HGNC]
  • CERNA1:competing endogenous lncRNA 1 for miR-4707-5p and miR-4767 [Gene - HGNC]
  • DNAAF4:dynein axonemal assembly factor 4 [Gene - OMIM - HGNC]
  • GLDN:gliomedin [Gene - OMIM - HGNC]
  • LINC01413:long intergenic non-protein coding RNA 1413 [Gene - HGNC]
  • LINC02490:long intergenic non-protein coding RNA 2490 [Gene - HGNC]
  • LINC03065:long intergenic non-protein coding RNA 3065 [Gene - HGNC]
  • LINC00926:long intergenic non-protein coding RNA 926 [Gene - HGNC]
  • MNS1:meiosis specific nuclear structural 1 [Gene - OMIM - HGNC]
  • MIR1266:microRNA 1266 [Gene - HGNC]
  • MIR628:microRNA 628 [Gene - HGNC]
  • MAPK6:mitogen-activated protein kinase 6 [Gene - OMIM - HGNC]
  • MYO5A:myosin VA [Gene - OMIM - HGNC]
  • MYO5C:myosin VC [Gene - OMIM - HGNC]
  • LOC120807607:negCOR silencer S8 [Gene]
  • ONECUT1:one cut homeobox 1 [Gene - OMIM - HGNC]
  • PIGB:phosphatidylinositol glycan anchor biosynthesis class B [Gene - OMIM - HGNC]
  • PIERCE2:piercer of microtubule wall 2 [Gene - OMIM - HGNC]
  • PRTG:protogenin [Gene - OMIM - HGNC]
  • PYGO1:pygopus family PHD finger 1 [Gene - OMIM - HGNC]
  • RFX7:regulatory factor X7 [Gene - OMIM - HGNC]
  • RSL24D1:ribosomal L24 domain containing 1 [Gene - OMIM - HGNC]
  • SCG3:secretogranin III [Gene - OMIM - HGNC]
  • SNORD13D:small nucleolar RNA, C/D box 13D [Gene - HGNC]
  • TEX9:testis expressed 9 [Gene - HGNC]
  • TCF12:transcription factor 12 [Gene - OMIM - HGNC]
  • TMOD2:tropomodulin 2 [Gene - OMIM - HGNC]
  • TMOD3:tropomodulin 3 [Gene - OMIM - HGNC]
  • UNC13C:unc-13 homolog C [Gene - OMIM - HGNC]
  • LOC101928499:uncharacterized LOC101928499 [Gene]
  • LOC105370829:uncharacterized LOC105370829 [Gene]
  • ZNF280D:zinc finger protein 280D [Gene - HGNC]
  • CYP19A1:cytochrome P450 family 19 subfamily A member 1 [Gene - OMIM - HGNC]
Variant type:
Inversion
Cytogenetic location:
15q21.2-21.3
Genomic location:
Chr15: 51338597 - 57376504 (on Assembly GRCh38)
Preferred name:
NC_000015.10:g.(51338597_?)_(?_57376504)inv
HGVS:
NC_000015.10:g.(51338597_?)_(?_57376504)inv
Note:
NCBI staff provided an indeterminate HGVS expression for allelic variant 107910.0010 based on the annotation of CGNL1 and CYP19A1 on chromosome 15 (GRCH38, annotation release RS_2023_10). The inversion was reported as approximately 6.1 Mb in the paper by Shozu et al., 2003 (PubMed 12736278).
Links:
OMIM: 107910.0010

Condition(s)

Name:
Aromatase excess syndrome (AEXS)
Synonyms:
AROMATASE ACTIVITY, INCREASED; GYNECOMASTIA, HEREDITARY; Familial gynecomastia, due to increased aromatase activity
Identifiers:
MONDO: MONDO:0007690; MedGen: C1970109; OMIM: 139300

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000039692OMIM
no assertion criteria provided
Pathogenic
(May 8, 2003) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Estrogen excess associated with novel gain-of-function mutations affecting the aromatase gene.

Shozu M, Sebastian S, Takayama K, Hsu WT, Schultz RA, Neely K, Bryant M, Bulun SE.

N Engl J Med. 2003 May 8;348(19):1855-65.

PubMed [citation]
PMID:
12736278

Details of each submission

From OMIM, SCV000039692.1

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

Description

In a 36-year-old man and his 7-year-old son with severe gynecomastia of prepubertal onset and mild hypogonadotropic hypogonadism caused by elevated estrogen levels (139300), Shozu et al. (2003) identified an inversion on 15q21.2-q21.3 that moved the promoter of the FLJ14957 gene (CGNL1; 607856) into a 5-prime position in relation to the aromatase coding region. The father in this case had progressive gynecomastia and a linear growth spurt at the age of 5 years, which was quickly followed by the development of pubic hair and penile enlargement. He stopped growing at the age of 14 years when his height was below the first percentile. He underwent bilateral mastectomy at the age of 16 years. The son was born when the father was 30 years old. Physical examination demonstrated a high-pitched voice, lack of facial hair, mastectomy scars, and unremarkable external genitalia. In the son the gynecomastia and accelerated linear growth likewise first occurred at the age of 5 years: his height and weight were above the 99th percentile, breast development was Tanner stage III, and he had normal prepubertal external genitalia. At the chronologic age of 5.5 years, his bone age was 13 years.

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

Last Updated: May 1, 2024