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NM_000102.4(CYP17A1):c.644T>G (p.Val215Gly) AND Premature ovarian failure

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 2, 2020
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:
RCV001270218.3

Allele description [Variation Report for NM_000102.4(CYP17A1):c.644T>G (p.Val215Gly)]

NM_000102.4(CYP17A1):c.644T>G (p.Val215Gly)

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.644T>G (p.Val215Gly)
HGVS:
  • NC_000010.11:g.102834807A>C
  • NG_007955.1:g.7727T>G
  • NM_000102.4:c.644T>GMANE SELECT
  • NP_000093.1:p.Val215Gly
  • NC_000010.10:g.104594564A>C
  • NM_000102.3:c.644T>G
Protein change:
V215G
Links:
dbSNP: rs1428700861
NCBI 1000 Genomes Browser:
rs1428700861
Molecular consequence:
  • NM_000102.4:c.644T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Premature ovarian failure (POF)
Synonyms:
Primary ovarian insufficiency; Primary ovarian failure
Identifiers:
MONDO: MONDO:0005387; MedGen: C0085215

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001364349Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Mar 2, 2020) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedresearch

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 Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano, SCV001364349.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 3, 2023