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NM_016112.3(PKD2L1):c.70G>A (p.Ala24Thr) 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:
RCV000149235.3

Allele description [Variation Report for NM_016112.3(PKD2L1):c.70G>A (p.Ala24Thr)]

NM_016112.3(PKD2L1):c.70G>A (p.Ala24Thr)

Gene:
PKD2L1:polycystin 2 like 1, transient receptor potential cation channel [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q24.31
Genomic location:
Preferred name:
NM_016112.3(PKD2L1):c.70G>A (p.Ala24Thr)
HGVS:
  • NC_000010.11:g.100330034C>T
  • NG_047099.1:g.21491G>A
  • NM_001253837.2:c.-94G>A
  • NM_016112.3:c.70G>AMANE SELECT
  • NP_057196.2:p.Ala24Thr
  • NC_000010.10:g.102089791C>T
  • NM_016112.2:c.70G>A
Protein change:
A24T
Links:
dbSNP: rs193920845
NCBI 1000 Genomes Browser:
rs193920845
Molecular consequence:
  • NM_001253837.2:c.-94G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_016112.3:c.70G>A - 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
SCV000088877Science for Life laboratory, Karolinska Institutet
no assertion criteria provided
Unknownsomaticnot provided

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

Description

TumorID:SWE-15

SCV000088877

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

The mitochondrial and autosomal mutation landscapes of prostate cancer.

Lindberg J, Mills IG, Klevebring D, Liu W, Neiman M, Xu J, Wikström P, Wiklund P, Wiklund F, Egevad L, Grönberg H.

Eur Urol. 2013 Apr;63(4):702-8. doi: 10.1016/j.eururo.2012.11.053. Epub 2012 Dec 5.

PubMed [citation]
PMID:
23265383

Details of each submission

From Science for Life laboratory, Karolinska Institutet, SCV000088877.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)

Description

Converted during submission to Uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Oct 14, 2023