U.S. flag

An official website of the United States government

NM_001007228.2(SPOP):c.386A>C (p.Lys129Thr) 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:
RCV001030930.4

Allele description [Variation Report for NM_001007228.2(SPOP):c.386A>C (p.Lys129Thr)]

NM_001007228.2(SPOP):c.386A>C (p.Lys129Thr)

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.386A>C (p.Lys129Thr)
HGVS:
  • NC_000017.11:g.49619075T>G
  • NG_041815.1:g.64089A>C
  • NM_001007226.1:c.386A>C
  • NM_001007227.1:c.386A>C
  • NM_001007228.2:c.386A>CMANE SELECT
  • NM_001007229.1:c.386A>C
  • NM_001007230.1:c.386A>C
  • NM_001370730.1:c.386A>C
  • NM_001370731.1:c.386A>C
  • NM_001370732.1:c.386A>C
  • NM_003563.3:c.386A>C
  • NP_001007227.1:p.Lys129Thr
  • NP_001007228.1:p.Lys129Thr
  • NP_001007229.1:p.Lys129Thr
  • NP_001007230.1:p.Lys129Thr
  • NP_001007231.1:p.Lys129Thr
  • NP_001357659.1:p.Lys129Thr
  • NP_001357660.1:p.Lys129Thr
  • NP_001357661.1:p.Lys129Thr
  • NP_003554.1:p.Lys129Thr
  • LRG_1412t1:c.386A>C
  • LRG_1412:g.64089A>C
  • LRG_1412p1:p.Lys129Thr
  • NC_000017.10:g.47696437T>G
Protein change:
K129T
Links:
dbSNP: rs2072156282
NCBI 1000 Genomes Browser:
rs2072156282
Molecular consequence:
  • NM_001007226.1:c.386A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001007227.1:c.386A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001007228.2:c.386A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001007229.1:c.386A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001007230.1:c.386A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370730.1:c.386A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370731.1:c.386A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370732.1:c.386A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003563.3:c.386A>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; Human Phenotype Ontology: HP:0012125

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
SCV000998619Laboratory 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, SCV000998619.1

#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: Jun 17, 2024