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NM_000102.4(CYP17A1):c.603C>A (p.Tyr201Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 2021
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:
RCV001958745.4

Allele description [Variation Report for NM_000102.4(CYP17A1):c.603C>A (p.Tyr201Ter)]

NM_000102.4(CYP17A1):c.603C>A (p.Tyr201Ter)

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.603C>A (p.Tyr201Ter)
HGVS:
  • NC_000010.11:g.102834848G>T
  • NG_007955.1:g.7686C>A
  • NM_000102.4:c.603C>AMANE SELECT
  • NP_000093.1:p.Tyr201Ter
  • NC_000010.10:g.104594605G>T
Protein change:
Y201*
Links:
dbSNP: rs1590203882
NCBI 1000 Genomes Browser:
rs1590203882
Molecular consequence:
  • NM_000102.4:c.603C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002240921Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Mar 1, 2021) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

P450c17 deficiency: clinical and molecular characterization of six patients.

Rosa S, Duff C, Meyer M, Lang-Muritano M, Balercia G, Boscaro M, Topaloglu AK, Mioni R, Fallo F, Zuliani L, Mantero F, Schoenle EJ, Biason-Lauber A.

J Clin Endocrinol Metab. 2007 Mar;92(3):1000-7. Epub 2006 Dec 27.

PubMed [citation]
PMID:
17192295

Clinical, genetic and functional characteristics of three novel CYP17A1 mutations causing combined 17alpha-hydroxylase/17,20-lyase deficiency.

Rosa S, Steigert M, Lang-Muritano M, l'Allemand D, Schoenle EJ, Biason-Lauber A.

Horm Res Paediatr. 2010;73(3):198-204. doi: 10.1159/000284362. Epub 2010 Mar 3.

PubMed [citation]
PMID:
20197673
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002240921.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This variant has not been reported in the literature in individuals with CYP17A1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr201*) in the CYP17A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYP17A1 are known to be pathogenic (PMID: 17192295, 20197673, 24140098). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024