NM_000546.5(TP53):c.481G>A (p.Ala161Thr) AND Malignant tumor of prostate

Clinical significance:Uncertain significance

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000149053.1

Allele description [Variation Report for NM_000546.5(TP53):c.481G>A (p.Ala161Thr)]

NM_000546.5(TP53):c.481G>A (p.Ala161Thr)

Gene:
TP53:tumor protein p53 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000546.5(TP53):c.481G>A (p.Ala161Thr)
Other names:
p.A161T:GCC>ACC
HGVS:
  • NC_000017.11:g.7675131C>T
  • NG_017013.2:g.17420G>A
  • NM_000546.5:c.481G>A
  • NM_001126112.2:c.481G>A
  • NM_001126113.2:c.481G>A
  • NM_001126114.2:c.481G>A
  • NM_001126115.1:c.85G>A
  • NM_001126116.1:c.85G>A
  • NM_001126117.1:c.85G>A
  • NM_001126118.1:c.364G>A
  • NM_001276695.2:c.364G>A
  • NM_001276696.2:c.364G>A
  • NM_001276697.2:c.4G>A
  • NM_001276698.2:c.4G>A
  • NM_001276699.2:c.4G>A
  • NM_001276760.2:c.364G>A
  • NM_001276761.2:c.364G>A
  • NP_000537.3:p.Ala161Thr
  • NP_001119584.1:p.Ala161Thr
  • NP_001119585.1:p.Ala161Thr
  • NP_001119586.1:p.Ala161Thr
  • NP_001119587.1:p.Ala29Thr
  • NP_001119588.1:p.Ala29Thr
  • NP_001119589.1:p.Ala29Thr
  • NP_001119590.1:p.Ala122Thr
  • NP_001263624.1:p.Ala122Thr
  • NP_001263625.1:p.Ala122Thr
  • NP_001263626.1:p.Ala2Thr
  • NP_001263627.1:p.Ala2Thr
  • NP_001263628.1:p.Ala2Thr
  • NP_001263689.1:p.Ala122Thr
  • NP_001263690.1:p.Ala122Thr
  • LRG_321t1:c.481G>A
  • LRG_321t2:c.481G>A
  • LRG_321t3:c.481G>A
  • LRG_321t4:c.481G>A
  • LRG_321t5:c.85G>A
  • LRG_321t6:c.85G>A
  • LRG_321t7:c.85G>A
  • LRG_321t8:c.364G>A
  • LRG_321:g.17420G>A
  • LRG_321:p.Ala161Thr
  • LRG_321p1:p.Ala161Thr
  • LRG_321p3:p.Ala161Thr
  • LRG_321p4:p.Ala161Thr
  • LRG_321p5:p.Ala29Thr
  • LRG_321p6:p.Ala29Thr
  • LRG_321p7:p.Ala29Thr
  • LRG_321p8:p.Ala122Thr
  • NC_000017.10:g.7578449C>T
  • NM_000546.4:c.481G>A
Protein change:
A122T
Links:
dbSNP: rs193920817
NCBI 1000 Genomes Browser:
rs193920817
Molecular consequence:
  • NM_000546.5:c.481G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.2:c.481G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.2:c.481G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.2:c.481G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126115.1:c.85G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126116.1:c.85G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126117.1:c.85G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.1:c.364G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.2:c.364G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.2:c.364G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276697.2:c.4G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276698.2:c.4G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276699.2:c.4G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.2:c.364G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.2:c.364G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000088695Science for Life laboratory, Karolinska Institutetno assertion criteria providedUnknownsomaticnot provided

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

Description

TumorID:SWE-13

SCV000088695

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, SCV000088695.1

#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: Apr 12, 2021

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