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NM_001007228.2(SPOP):c.337G>C (p.Glu113Gln) AND Malignant tumor of prostate

Germline classification:
Uncertain significance (1 submission)
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:
RCV001030914.4

Allele description [Variation Report for NM_001007228.2(SPOP):c.337G>C (p.Glu113Gln)]

NM_001007228.2(SPOP):c.337G>C (p.Glu113Gln)

Gene:
SPOP:speckle type BTB/POZ protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.33
Genomic location:
Preferred name:
NM_001007228.2(SPOP):c.337G>C (p.Glu113Gln)
HGVS:
  • NC_000017.11:g.49619249C>G
  • NG_041815.1:g.63915G>C
  • NM_001007226.1:c.337G>C
  • NM_001007227.1:c.337G>C
  • NM_001007228.2:c.337G>CMANE SELECT
  • NM_001007229.1:c.337G>C
  • NM_001007230.1:c.337G>C
  • NM_001370730.1:c.337G>C
  • NM_001370731.1:c.337G>C
  • NM_001370732.1:c.337G>C
  • NM_003563.3:c.337G>C
  • NP_001007227.1:p.Glu113Gln
  • NP_001007228.1:p.Glu113Gln
  • NP_001007229.1:p.Glu113Gln
  • NP_001007230.1:p.Glu113Gln
  • NP_001007231.1:p.Glu113Gln
  • NP_001357659.1:p.Glu113Gln
  • NP_001357660.1:p.Glu113Gln
  • NP_001357661.1:p.Glu113Gln
  • NP_003554.1:p.Glu113Gln
  • LRG_1412t1:c.337G>C
  • LRG_1412:g.63915G>C
  • LRG_1412p1:p.Glu113Gln
  • NC_000017.10:g.47696611C>G
Protein change:
E113Q
Links:
dbSNP: rs2072163144
NCBI 1000 Genomes Browser:
rs2072163144
Molecular consequence:
  • NM_001007226.1:c.337G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001007227.1:c.337G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001007228.2:c.337G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001007229.1:c.337G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001007230.1:c.337G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370730.1:c.337G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370731.1:c.337G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370732.1:c.337G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003563.3:c.337G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Malignant tumor of prostate
Synonyms:
Prostate cancer
Identifiers:
MONDO: MONDO:0008315; MedGen: C0376358; Orphanet: 1331; OMIM: 176807; Human Phenotype Ontology: HP:0012125

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000998739Laboratory of Virology, Microbiology, Quality and Medical Biotechnologies, Faculty of Sciences and Techniques - Mohammedia, Hassan II University of Casablanca
no assertion criteria provided
Uncertain significancesomaticclinical testing

Help

Summary from all submissions

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

Details of each submission

From Laboratory of Virology, Microbiology, Quality and Medical Biotechnologies, Faculty of Sciences and Techniques - Mohammedia, Hassan II University of Casablanca, SCV000998739.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 14, 2023