NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Jan 31, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001269804.1

Allele description [Variation Report for NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser)]

NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser)

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.586G>A (p.Gly196Ser)
HGVS:
  • NC_000002.12:g.31529419C>T
  • NG_008365.1:g.56553G>A
  • NM_000348.4:c.586G>AMANE SELECT
  • NP_000339.2:p.Gly196Ser
  • NC_000002.11:g.31754489C>T
  • NM_000348.3:c.586G>A
Protein change:
G196S; GLY196SER
Links:
OMIM: 607306.0010; dbSNP: rs121434250
NCBI 1000 Genomes Browser:
rs121434250
Molecular consequence:
  • NM_000348.4:c.586G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001450075Clinical Genetics Karolinska University Hospital,Karolinska University Hospitalcriteria provided, single submitter
Likely pathogenic
(Jan 31, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not 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 Clinical Genetics Karolinska University Hospital,Karolinska University Hospital, SCV001450075.1

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

Last Updated: Sep 6, 2021

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