NM_000102.4(CYP17A1):c.1313del (p.Gly438fs) AND 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 1, 1995
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:: RCV000001857.3

Allele description [Variation Report for NM_000102.4(CYP17A1):c.1313del (p.Gly438fs)]

NM_000102.4(CYP17A1):c.1313del (p.Gly438fs)

Gene:

CYP17A1:cytochrome P450 family 17 subfamily A member 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

10q24.32

Genomic location:

Preferred name:

NM_000102.4(CYP17A1):c.1313del (p.Gly438fs)

HGVS:

NC_000010.11:g.102830917del
NG_007955.1:g.11618del
NM_000102.4:c.1313delMANE SELECT
NP_000093.1:p.Gly438fs
NC_000010.10:g.104590674del

Protein change:

G438fs

Links:

OMIM: 609300.0008; dbSNP: rs2134081192

NCBI 1000 Genomes Browser:

rs2134081192

Molecular consequence:

NM_000102.4:c.1313del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000022013	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 1995)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000022013

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 1995)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Seventeen alpha-hydroxylase deficiency with one base pair deletion of the cytochrome P450c17 (CYP17) gene.

Oshiro C, Takasu N, Wakugami T, Komiya I, Yamada T, Eguchi Y, Takei H.

J Clin Endocrinol Metab. 1995 Aug;80(8):2526-9.

PubMed [citation]

PMID:: 7629254

Details of each submission

From OMIM, SCV000022013.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a 32-year-old Japanese female with combined partial 17-alpha-hydroxylase/17,20-lyase deficiency (202110), Oshiro et al. (1995) identified a 1-bp deletion of a G in amino acid 438 in the CYP17A1 gene. The deletion altered the reading frame and resulted in a premature stop codon at position 443. The ligand of heme iron, cystine-442, was absent. The truncated protein showed normal amino acid residues 1-437 and abnormal amino acid residues 438-442. The mutation caused loss of an AvaII restriction site which was used to demonstrate that the mother and a sister were heterozygous for the mutation. Oshiro et al. (1995) reported that 16 CYP17 allelic variants had been reported.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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