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NM_000103.4(CYP19A1):c.343C>T (p.Arg115Ter) AND Aromatase deficiency

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
May 8, 2023
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:
RCV001832802.3

Allele description [Variation Report for NM_000103.4(CYP19A1):c.343C>T (p.Arg115Ter)]

NM_000103.4(CYP19A1):c.343C>T (p.Arg115Ter)

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.343C>T (p.Arg115Ter)
HGVS:
  • NC_000015.10:g.51227887G>A
  • NG_007982.1:g.115712C>T
  • NM_000103.4:c.343C>TMANE SELECT
  • NM_001347248.1:c.343C>T
  • NM_001347249.2:c.343C>T
  • NM_001347250.2:c.343C>T
  • NM_001347251.2:c.343C>T
  • NM_001347252.2:c.343C>T
  • NM_001347253.2:c.343C>T
  • NM_001347254.2:c.343C>T
  • NM_001347255.2:c.343C>T
  • NM_001347256.2:c.343C>T
  • NM_031226.3:c.343C>T
  • NP_000094.2:p.Arg115Ter
  • NP_001334177.1:p.Arg115Ter
  • NP_001334178.1:p.Arg115Ter
  • NP_001334179.1:p.Arg115Ter
  • NP_001334180.1:p.Arg115Ter
  • NP_001334181.1:p.Arg115Ter
  • NP_001334182.1:p.Arg115Ter
  • NP_001334183.1:p.Arg115Ter
  • NP_001334184.1:p.Arg115Ter
  • NP_001334185.1:p.Arg115Ter
  • NP_112503.1:p.Arg115Ter
  • NC_000015.9:g.51520084G>A
  • NM_001347256.2:c.343C>T
  • NM_031226.2:c.343C>T
Protein change:
R115*
Links:
dbSNP: rs2141079375
NCBI 1000 Genomes Browser:
rs2141079375
Molecular consequence:
  • NM_000103.4:c.343C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001347248.1:c.343C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001347249.2:c.343C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001347250.2:c.343C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001347251.2:c.343C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001347252.2:c.343C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001347253.2:c.343C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001347254.2:c.343C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001347255.2:c.343C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001347256.2:c.343C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_031226.3:c.343C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002085574Natera, Inc.
no assertion criteria provided
Pathogenic
(Dec 2, 2020) 		germlineclinical testing

SCV003924361Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 8, 2023) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Natera, Inc., SCV002085574.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV003924361.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024