NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Apr 15, 2016
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:: RCV000083663.6

Allele description [Variation Report for NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)]

NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)

Gene:

SRD5A2:steroid 5 alpha-reductase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.1

Genomic location:

Preferred name:

NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)

Other names:

NM_000348.3(SRD5A2):c.680G>A(p.Arg227Gln)

HGVS:

NC_000002.12:g.31529325C>T
NG_008365.1:g.56647G>A
NM_000348.4:c.680G>AMANE SELECT
NP_000339.2:p.Arg227Gln
NC_000002.11:g.31754395C>T
NM_000348.3:c.680G>A

Protein change:

R227Q; ARG227GLN

Links:

OMIM: 607306.0016; dbSNP: rs9332964

NCBI 1000 Genomes Browser:

rs9332964

Molecular consequence:

NM_000348.4:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000115749	University of Sydney Medical Foundation	no classification provided	not provided	not provided	not provided
SCV000340737	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Apr 15, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000115749

University of Sydney Medical Foundation

no classification provided

not provided

SCV000340737

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Apr 15, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From University of Sydney Medical Foundation, SCV000115749.1

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

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

From Eurofins Ntd Llc (ga), SCV000340737.4

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

Last Updated: May 19, 2024

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