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NM_000103.4(CYP19A1):c.628G>A (p.Glu210Lys) AND Aromatase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2004
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:
RCV000019404.28

Allele description [Variation Report for NM_000103.4(CYP19A1):c.628G>A (p.Glu210Lys)]

NM_000103.4(CYP19A1):c.628G>A (p.Glu210Lys)

Genes:
MIR4713HG:MIR4713 host gene [Gene - HGNC]
CYP19A1:cytochrome P450 family 19 subfamily A member 1 [Gene - OMIM - HGNC]
PIRC66:piwi-interacting RNA cluster 66 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.2
Genomic location:
Preferred name:
NM_000103.4(CYP19A1):c.628G>A (p.Glu210Lys)
HGVS:
  • NC_000015.10:g.51222349C>T
  • NG_007982.1:g.121250G>A
  • NM_000103.4:c.628G>AMANE SELECT
  • NM_001347248.1:c.628G>A
  • NM_001347249.2:c.628G>A
  • NM_001347250.2:c.628G>A
  • NM_001347251.2:c.628G>A
  • NM_001347252.2:c.628G>A
  • NM_001347253.2:c.628G>A
  • NM_001347254.2:c.628G>A
  • NM_001347255.2:c.628G>A
  • NM_001347256.2:c.628G>A
  • NM_031226.3:c.628G>A
  • NP_000094.2:p.Glu210Lys
  • NP_001334177.1:p.Glu210Lys
  • NP_001334178.1:p.Glu210Lys
  • NP_001334179.1:p.Glu210Lys
  • NP_001334180.1:p.Glu210Lys
  • NP_001334181.1:p.Glu210Lys
  • NP_001334182.1:p.Glu210Lys
  • NP_001334183.1:p.Glu210Lys
  • NP_001334184.1:p.Glu210Lys
  • NP_001334185.1:p.Glu210Lys
  • NP_112503.1:p.Glu210Lys
  • NC_000015.9:g.51514546C>T
Protein change:
E210K; GLU210LYS
Links:
OMIM: 107910.0012; dbSNP: rs121434538
NCBI 1000 Genomes Browser:
rs121434538
Molecular consequence:
  • NM_000103.4:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347248.1:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347249.2:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347250.2:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347251.2:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347252.2:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347253.2:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347254.2:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347255.2:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347256.2:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_031226.3:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Aromatase deficiency
Synonyms:
Increased aromatase activity; Pseudohermaphroditism, female, due to placental aromatase deficiency
Identifiers:
MONDO: MONDO:0013301; MedGen: C1960539; Orphanet: 91; OMIM: 613546

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000039694OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 2004) 		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

Dysmetabolic syndrome in a man with a novel mutation of the aromatase gene: effects of testosterone, alendronate, and estradiol treatment.

Maffei L, Murata Y, Rochira V, Tubert G, Aranda C, Vazquez M, Clyne CD, Davis S, Simpson ER, Carani C.

J Clin Endocrinol Metab. 2004 Jan;89(1):61-70.

PubMed [citation]
PMID:
14715828

Details of each submission

From OMIM, SCV000039694.2

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

Description

In a 29-year-old man with aromatase deficiency (613546), Maffei et al. (2004) detected a homozygous G-to-A transition at the last nucleotide of exon 5 of the CYP19A1 gene that resulted in a glu210-to-lys (E210K) amino acid substitution. Continuing linear growth, eunuchoid body proportions, diffuse bone pain, and bilateral cryptorchidism were observed. The patient had a complex dysmetabolic syndrome characterized by insulin resistance, diabetes mellitus type 2, acanthosis nigricans, liver steatohepatitis, and signs of precocious atherogenesis. Testosterone treatment at high doses resulted in a severe imbalance in the estradiol-to-testosterone ratio together with insulin resistance and diabetes mellitus type 2. Estrogen treatment resulted in an improvement of acanthosis nigricans, insulin resistance, and liver steatohepatitis, coupled with a better glycemic control and the disappearance of 2 carotid plaques. Testis biopsy showed a pattern of total germ cell depletion that might be due to the concomitant presence of bilateral cryptorchidism. The authors concluded that this case of aromatase deficiency confirmed previous data on bone maturation and mineralization and revealed a high risk for the precocious development of cardiovascular disease in young aromatase-deficient men.

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

Last Updated: Sep 29, 2024