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NM_000102.4(CYP17A1):c.334_336dup (p.Ile112dup) AND Congenital adrenal hyperplasia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 1, 2022
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:
RCV002222923.1

Allele description [Variation Report for NM_000102.4(CYP17A1):c.334_336dup (p.Ile112dup)]

NM_000102.4(CYP17A1):c.334_336dup (p.Ile112dup)

Gene:
CYP17A1:cytochrome P450 family 17 subfamily A member 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
10q24.32
Genomic location:
Preferred name:
NM_000102.4(CYP17A1):c.334_336dup (p.Ile112dup)
HGVS:
  • NC_000010.11:g.102835354_102835356dup
  • NG_007955.1:g.7178_7180dup
  • NM_000102.4:c.334_336dupMANE SELECT
  • NP_000093.1:p.Ile112dup
  • NC_000010.10:g.104595111_104595113dup
  • NM_000102.3:c.334_336dupATC
Links:
dbSNP: rs1844148108
NCBI 1000 Genomes Browser:
rs1844148108
Molecular consequence:
  • NM_000102.4:c.334_336dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:
Congenital adrenal hyperplasia (CAH)
Identifiers:
MONDO: MONDO:0018479; MedGen: C0001627; Human Phenotype Ontology: HP:0008258

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002500267Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely pathogenic
(Mar 1, 2022) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Expression and purification of functional human 17 alpha-hydroxylase/17,20-lyase (P450c17) in Escherichia coli. Use of this system for study of a novel form of combined 17 alpha-hydroxylase/17,20-lyase deficiency.

Imai T, Globerman H, Gertner JM, Kagawa N, Waterman MR.

J Biol Chem. 1993 Sep 15;268(26):19681-9.

PubMed [citation]
PMID:
8396144

Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population.

Wang M, Wang H, Zhao H, Li L, Liu M, Liu F, Meng F, Fan C.

Clin Hypertens. 2019;25:23. doi: 10.1186/s40885-019-0128-6.

PubMed [citation]
PMID:
31636948
PMCID:
PMC6792268

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002500267.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

Variant summary: CYP17A1 c.334_336dupATC (p.Ile112dup) results in an in-frame duplication that is predicted to duplicate one amino acids in the encoded protein. The variant was absent in 251478 control chromosomes (gnomAD). c.334_336dupATC has been reported in the literature in a compound heterozygous individual affected with 17-alpha-hydroxylase deficiency (Imai_1993). Authors of this report also provided experimental evidence evaluating an impact on protein function, and after expressing both variant proteins in E. coli, they demonstrated that the Ile112 duplication variant protein had no activity (Imai_1993). Missense variants around this positions (e.g. R96W, S106P, G111S, F114V, D116V, W121R) have been reported in affected individuals (HGMD), indicating an important functional role for this protein region. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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

Last Updated: Dec 30, 2023