U.S. flag

An official website of the United States government

NM_000102.4(CYP17A1):c.1194G>A (p.Ala398=) AND Deficiency of steroid 17-alpha-monooxygenase

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Jan 2, 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:
RCV001832093.2

Allele description [Variation Report for NM_000102.4(CYP17A1):c.1194G>A (p.Ala398=)]

NM_000102.4(CYP17A1):c.1194G>A (p.Ala398=)

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.1194G>A (p.Ala398=)
HGVS:
  • NC_000010.11:g.102831557C>T
  • NG_007955.1:g.10977G>A
  • NM_000102.4:c.1194G>AMANE SELECT
  • NP_000093.1:p.Ala398=
  • NC_000010.10:g.104591314C>T
  • NM_000102.3:c.1194G>A
Links:
dbSNP: rs201222065
NCBI 1000 Genomes Browser:
rs201222065
Molecular consequence:
  • NM_000102.4:c.1194G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Deficiency of steroid 17-alpha-monooxygenase
Synonyms:
ADRENAL HYPERPLASIA V; 17-alpha-hydroxylase deficiency; Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008730; MedGen: C0268285; OMIM: 202110

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
SCV002088633Natera, Inc.
no assertion criteria provided
Likely benign
(Apr 6, 2020) 		germlineclinical testing

SCV002813621Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Jan 2, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Natera, Inc., SCV002088633.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Fulgent Genetics, Fulgent Genetics, SCV002813621.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024