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NM_000103.4(CYP19A1):c.493G>A (p.Ala165Thr) AND Aromatase deficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 17, 2020
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:
RCV001279030.1

Allele description [Variation Report for NM_000103.4(CYP19A1):c.493G>A (p.Ala165Thr)]

NM_000103.4(CYP19A1):c.493G>A (p.Ala165Thr)

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.493G>A (p.Ala165Thr)
HGVS:
  • NC_000015.10:g.51222484C>T
  • NG_007982.1:g.121115G>A
  • NM_000103.4:c.493G>AMANE SELECT
  • NM_001347248.1:c.493G>A
  • NM_001347249.2:c.493G>A
  • NM_001347250.2:c.493G>A
  • NM_001347251.2:c.493G>A
  • NM_001347252.2:c.493G>A
  • NM_001347253.2:c.493G>A
  • NM_001347254.2:c.493G>A
  • NM_001347255.2:c.493G>A
  • NM_001347256.2:c.493G>A
  • NM_031226.3:c.493G>A
  • NP_000094.2:p.Ala165Thr
  • NP_001334177.1:p.Ala165Thr
  • NP_001334178.1:p.Ala165Thr
  • NP_001334179.1:p.Ala165Thr
  • NP_001334180.1:p.Ala165Thr
  • NP_001334181.1:p.Ala165Thr
  • NP_001334182.1:p.Ala165Thr
  • NP_001334183.1:p.Ala165Thr
  • NP_001334184.1:p.Ala165Thr
  • NP_001334185.1:p.Ala165Thr
  • NP_112503.1:p.Ala165Thr
  • NC_000015.9:g.51514681C>T
Protein change:
A165T
Links:
dbSNP: rs769769335
NCBI 1000 Genomes Browser:
rs769769335
Molecular consequence:
  • NM_000103.4:c.493G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347248.1:c.493G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347249.2:c.493G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347250.2:c.493G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347251.2:c.493G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347252.2:c.493G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347253.2:c.493G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347254.2:c.493G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347255.2:c.493G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347256.2:c.493G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_031226.3:c.493G>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
SCV001466086Natera, Inc.
no assertion criteria provided
Uncertain significance
(Apr 17, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001466086.1

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

Last Updated: Apr 23, 2022