NM_000197.2(HSD17B3):c.383T>C (p.Leu128Ser) AND Pseudohermaphroditism

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 29, 2017
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000581861.1

Allele description [Variation Report for NM_000197.2(HSD17B3):c.383T>C (p.Leu128Ser)]

NM_000197.2(HSD17B3):c.383T>C (p.Leu128Ser)

Genes:

SLC35D2-HSD17B3:SLC35D2-HSD17B3 readthrough [Gene]
HSD17B3:hydroxysteroid 17-beta dehydrogenase 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.32

Genomic location:

Preferred name:

NM_000197.2(HSD17B3):c.383T>C (p.Leu128Ser)

HGVS:

NC_000009.12:g.96252805A>G
NG_008157.1:g.54348T>C
NM_000197.2:c.383T>CMANE SELECT
NP_000188.1:p.Leu128Ser
LRG_1296t1:c.383T>C
LRG_1296:g.54348T>C
LRG_1296p1:p.Leu128Ser
NC_000009.11:g.99015087A>G
NM_000197.1:c.383T>C

Protein change:

L128S

Links:

dbSNP: rs767765046

NCBI 1000 Genomes Browser:

rs767765046

Molecular consequence:

NM_000197.2:c.383T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Pseudohermaphroditism
Identifiers:: MONDO: MONDO:0005518; MedGen: C0033804

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000692118	Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	no assertion criteria provided	Likely pathogenic (Mar 29, 2017)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000692118

Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

no assertion criteria provided

Likely pathogenic
(Mar 29, 2017)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital, SCV000692118.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 26, 2023

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