U.S. flag

An official website of the United States government

NM_000197.2(HSD17B3):c.673G>A (p.Val225Met) AND Testosterone 17-beta-dehydrogenase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 20, 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:
RCV003459913.1

Allele description [Variation Report for NM_000197.2(HSD17B3):c.673G>A (p.Val225Met)]

NM_000197.2(HSD17B3):c.673G>A (p.Val225Met)

Gene:
HSD17B3:hydroxysteroid 17-beta dehydrogenase 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Preferred name:
NM_000197.2(HSD17B3):c.673G>A (p.Val225Met)
HGVS:
  • NC_000009.12:g.96240907C>T
  • NG_008157.1:g.66246G>A
  • NM_000197.2:c.673G>AMANE SELECT
  • NP_000188.1:p.Val225Met
  • LRG_1296t1:c.673G>A
  • LRG_1296:g.66246G>A
  • LRG_1296p1:p.Val225Met
  • NC_000009.11:g.99003189C>T
  • NM_000197.1:c.673G>A
  • NR_182427.1:n.3440G>A
Protein change:
V225M
Molecular consequence:
  • NM_000197.2:c.673G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_182427.1:n.3440G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Testosterone 17-beta-dehydrogenase deficiency
Synonyms:
17-beta hydroxysteroid dehydrogenase 3 deficiency; 17 alpha ketosteroid reductase deficiency of testis; 17 alpha KSR deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009916; MedGen: C0268296; Orphanet: 752; OMIM: 264300

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
SCV004190287Clinical Biochemistry Laboratory, Health Services Laboratory
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Nov 20, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Screening for mutations in 17β-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex development.

Phelan N, Williams EL, Cardamone S, Lee M, Creighton SM, Rumsby G, Conway GS.

Eur J Endocrinol. 2015 Jun;172(6):745-51. doi: 10.1530/EJE-14-0994. Epub 2015 Mar 4.

PubMed [citation]
PMID:
25740850

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 Clinical Biochemistry Laboratory, Health Services Laboratory, SCV004190287.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

ACMG:PM1 PM2 PM3 PP2 PP3 PP4

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

Last Updated: Sep 29, 2024