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NM_031226.2(CYP19A1):c.602C>T (p.Thr201Met)

Variation ID: Help
316476
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Likely benign
Last evaluated:
Jun 14, 2016
Number of submission(s):
1
Condition(s):
Aromatase deficiency[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_031226.2(CYP19A1):c.602C>T (p.Thr201Met)

Allele ID:
332373
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.2
Genomic location:
  • Chr15: 51222375 (on Assembly GRCh38)
  • Chr15: 51514572 (on Assembly GRCh37)
Protein change:
T201M
HGVS:
  • NG_007982.1:g.121224C>T
  • NM_031226.2:c.602C>T
  • NP_112503.1:p.Thr201Met
  • NC_000015.10:g.51222375G>A (GRCh38)
  • NC_000015.9:g.51514572G>A (GRCh37)
  • P11511:p.Thr201Met
Links:
NCBI 1000 Genomes Browser:
rs28757184
Molecular consequence:
NM_031226.2:c.602C>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • 1000 Genomes Project 0.02656 (A)
  • 1000 Genomes Project 0.02656
  • Exome Aggregation Consortium (ExAC) 0.02425
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.04446
  • The Genome Aggregation Database (gnomAD) 0.03303
  • The Genome Aggregation Database (gnomAD), exomes 0.02371
  • Trans-Omics for Precision Medicine (TOPMed) 0.03879

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
clinical testinggermlineIllumina Clinical Services Laboratory,IlluminaSCV000392979.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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