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NM_000546.6(TP53):c.394A>C (p.Lys132Gln) AND Carcinoma of esophagus

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 31, 2016
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:
RCV000422568.2

Allele description [Variation Report for NM_000546.6(TP53):c.394A>C (p.Lys132Gln)]

NM_000546.6(TP53):c.394A>C (p.Lys132Gln)

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.394A>C (p.Lys132Gln)
HGVS:
  • NC_000017.11:g.7675218T>G
  • NG_017013.2:g.17333A>C
  • NM_000546.6:c.394A>CMANE SELECT
  • NM_001126112.3:c.394A>C
  • NM_001126113.3:c.394A>C
  • NM_001126114.3:c.394A>C
  • NM_001126115.2:c.-3A>C
  • NM_001126116.2:c.-3A>C
  • NM_001126117.2:c.-3A>C
  • NM_001126118.2:c.277A>C
  • NM_001276695.3:c.277A>C
  • NM_001276696.3:c.277A>C
  • NM_001276697.3:c.-84A>C
  • NM_001276698.3:c.-84A>C
  • NM_001276699.3:c.-84A>C
  • NM_001276760.3:c.277A>C
  • NM_001276761.3:c.277A>C
  • NP_000537.3:p.Lys132Gln
  • NP_000537.3:p.Lys132Gln
  • NP_001119584.1:p.Lys132Gln
  • NP_001119585.1:p.Lys132Gln
  • NP_001119586.1:p.Lys132Gln
  • NP_001119590.1:p.Lys93Gln
  • NP_001263624.1:p.Lys93Gln
  • NP_001263625.1:p.Lys93Gln
  • NP_001263689.1:p.Lys93Gln
  • NP_001263690.1:p.Lys93Gln
  • LRG_321t1:c.394A>C
  • LRG_321:g.17333A>C
  • LRG_321p1:p.Lys132Gln
  • NC_000017.10:g.7578536T>G
  • NM_000546.4:c.394A>C
  • NM_000546.5:c.394A>C
Protein change:
K132Q
Links:
dbSNP: rs747342068
NCBI 1000 Genomes Browser:
rs747342068
Molecular consequence:
  • NM_001126115.2:c.-3A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001126116.2:c.-3A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001126117.2:c.-3A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276697.3:c.-84A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276698.3:c.-84A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276699.3:c.-84A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000546.6:c.394A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.394A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.394A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.394A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.277A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.3:c.277A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.3:c.277A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.277A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.277A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Carcinoma of esophagus
Synonyms:
Oesophageal carcinoma; Esophageal carcinoma
Identifiers:
MONDO: MONDO:0019086; MedGen: C0152018; Orphanet: 70482; Human Phenotype Ontology: HP:0011459

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000508784Database of Curated Mutations (DoCM)
no assertion criteria provided
Likely pathogenic
(May 31, 2016) 		somaticliterature only

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Nothing to display

Details of each submission

From Database of Curated Mutations (DoCM), SCV000508784.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024