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NM_000546.6(TP53):c.375G>A (p.Thr125=) AND Malignant tumor of prostate

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 19, 2021
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:
RCV001527480.4

Allele description [Variation Report for NM_000546.6(TP53):c.375G>A (p.Thr125=)]

NM_000546.6(TP53):c.375G>A (p.Thr125=)

Gene:
TP53:tumor protein p53 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000546.6(TP53):c.375G>A (p.Thr125=)
HGVS:
  • NC_000017.11:g.7675994C>T
  • NG_017013.2:g.16557G>A
  • NM_000546.6:c.375G>AMANE SELECT
  • NM_001126112.3:c.375G>A
  • NM_001126113.3:c.375G>A
  • NM_001126114.3:c.375G>A
  • NM_001126118.2:c.258G>A
  • NM_001276695.3:c.258G>A
  • NM_001276696.3:c.258G>A
  • NM_001276760.3:c.258G>A
  • NM_001276761.3:c.258G>A
  • NP_000537.3:p.Thr125=
  • NP_000537.3:p.Thr125=
  • NP_001119584.1:p.Thr125=
  • NP_001119585.1:p.Thr125=
  • NP_001119586.1:p.Thr125=
  • NP_001119590.1:p.Thr86=
  • NP_001263624.1:p.Thr86=
  • NP_001263625.1:p.Thr86=
  • NP_001263689.1:p.Thr86=
  • NP_001263690.1:p.Thr86=
  • LRG_321t1:c.375G>A
  • LRG_321:g.16557G>A
  • LRG_321p1:p.Thr125=
  • NC_000017.10:g.7579312C>T
  • NM_000546.4:c.375G>A
  • NM_000546.5:c.375G>A
  • p.Thr125Thr
Links:
dbSNP: rs55863639
NCBI 1000 Genomes Browser:
rs55863639
Molecular consequence:
  • NM_000546.6:c.375G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001126112.3:c.375G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001126113.3:c.375G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001126114.3:c.375G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001126118.2:c.258G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001276695.3:c.258G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001276696.3:c.258G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001276760.3:c.258G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001276761.3:c.258G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Functional consequence:
sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071] - Comment(s)

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001738499University Health Network, Princess Margaret Cancer Centre
no assertion criteria provided
Pathogenic
(Mar 19, 2021) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From University Health Network, Princess Margaret Cancer Centre, SCV001738499.1

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

Last Updated: Nov 10, 2024