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NM_000102.4(CYP17A1):c.660G>A (p.Trp220Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 14, 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:
RCV001233983.6

Allele description [Variation Report for NM_000102.4(CYP17A1):c.660G>A (p.Trp220Ter)]

NM_000102.4(CYP17A1):c.660G>A (p.Trp220Ter)

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.660G>A (p.Trp220Ter)
HGVS:
  • NC_000010.11:g.102834791C>T
  • NG_007955.1:g.7743G>A
  • NM_000102.4:c.660G>AMANE SELECT
  • NP_000093.1:p.Trp220Ter
  • NC_000010.10:g.104594548C>T
  • NM_000102.3:c.660G>A
Protein change:
W220*
Links:
dbSNP: rs879802265
NCBI 1000 Genomes Browser:
rs879802265
Molecular consequence:
  • NM_000102.4:c.660G>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
SCV001406605Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Feb 14, 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, SCV001406605.5

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

Description

This sequence change creates a premature translational stop signal (p.Trp220*) 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 present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with CYP17A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 960455). 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: Oct 13, 2024