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NM_000102.4(CYP17A1):c.1039C>T (p.Arg347Cys) AND 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 2002
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:
RCV000001867.5

Allele description [Variation Report for NM_000102.4(CYP17A1):c.1039C>T (p.Arg347Cys)]

NM_000102.4(CYP17A1):c.1039C>T (p.Arg347Cys)

Gene:
CYP17A1:cytochrome P450 family 17 subfamily A member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q24.32
Genomic location:
Preferred name:
NM_000102.4(CYP17A1):c.1039C>T (p.Arg347Cys)
HGVS:
  • NC_000010.11:g.102832611G>A
  • NG_007955.1:g.9923C>T
  • NM_000102.4:c.1039C>TMANE SELECT
  • NP_000093.1:p.Arg347Cys
  • NC_000010.10:g.104592368G>A
  • NM_000102.3:c.1039C>T
  • P05093:p.Arg347Cys
Protein change:
R347C; ARG347CYS
Links:
UniProtKB: P05093#VAR_022752; OMIM: 609300.0021; dbSNP: rs104894149
NCBI 1000 Genomes Browser:
rs104894149
Molecular consequence:
  • NM_000102.4:c.1039C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
17-alpha-hydroxylase/17,20-lyase deficiency, combined partial
Identifiers:
MONDO: MONDO:0800380; MedGen: C4017190

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000022023OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 2002) 		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

Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency.

Van Den Akker EL, Koper JW, Boehmer AL, Themmen AP, Verhoef-Post M, Timmerman MA, Otten BJ, Drop SL, De Jong FH.

J Clin Endocrinol Metab. 2002 Dec;87(12):5714-21.

PubMed [citation]
PMID:
12466376

Details of each submission

From OMIM, SCV000022023.4

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

Description

Van den Akker et al. (2002) reported 2 female patients with partial 17-alpha-hydroxylase deficiency and complete 17,20-lyase deficiency (202110) who were compound heterozygotes for 2 mutations in the CYP17A1 gene: an arg347-to-cys (R347C) mutation in the redox partner interaction domain of the CYP17 gene, resulting in complete 17,20-lyase deficiency, and a second mutation. In 1 patient, the second mutation was a 4-bp duplication in exon 8 (609300.0001) and in the other patient, it was a 25-bp deletion (nucleotides 204-228 of the coding sequence) in exon 1 (609300.0022). In vitro studies showed that the R347C mutant protein had 13.6% and less than 1% residual activities of 17-alpha-hydroxylase and 17,20-lyase, respectively. Both patients were phenotypic females (genotype 46,XY) with hypertension, normal renin levels, and low-normal cortisol levels.

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

Last Updated: Sep 29, 2024