U.S. flag

An official website of the United States government

NM_000102.4(CYP17A1):c.973A>T (p.Lys325Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 19, 2023
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:
RCV003579012.2

Allele description [Variation Report for NM_000102.4(CYP17A1):c.973A>T (p.Lys325Ter)]

NM_000102.4(CYP17A1):c.973A>T (p.Lys325Ter)

Genes:
CYP17A1-AS1:CYP17A1 antisense RNA 1 [Gene - HGNC]
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.973A>T (p.Lys325Ter)
HGVS:
  • NC_000010.11:g.102832677T>A
  • NG_007955.1:g.9857A>T
  • NM_000102.4:c.973A>TMANE SELECT
  • NP_000093.1:p.Lys325Ter
  • NC_000010.10:g.104592434T>A
Protein change:
K325*
Molecular consequence:
  • NM_000102.4:c.973A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004334762Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Oct 19, 2023) 		germlineclinical testing

PubMed (6)
[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

17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation.

Biason-Lauber A, Kempken B, Werder E, Forest MG, Einaudi S, Ranke MB, Matsuo N, Brunelli V, Schönle EJ, Zachmann M.

J Clin Endocrinol Metab. 2000 Mar;85(3):1226-31.

PubMed [citation]
PMID:
10720067

Deficiency of 17,20-lyase causing giant ovarian cysts in a girl and a female phenotype in her 46,XY sister: case report.

ten Kate-Booij MJ, Cobbaert C, Koper JW, de Jong FH.

Hum Reprod. 2004 Feb;19(2):456-9.

PubMed [citation]
PMID:
14747197
See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004334762.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

This sequence change creates a premature translational stop signal (p.Lys325*) 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: 10720067, 14747197, 17192295, 20197673, 24140098). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CYP17A1-related conditions. 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