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NM_000546.6(TP53):c.734G>C (p.Gly245Ala) AND Adrenal cortex carcinoma

Germline classification:
Likely pathogenic (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:
RCV003995742.1

Allele description [Variation Report for NM_000546.6(TP53):c.734G>C (p.Gly245Ala)]

NM_000546.6(TP53):c.734G>C (p.Gly245Ala)

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.734G>C (p.Gly245Ala)
HGVS:
  • NC_000017.11:g.7674229C>G
  • NG_017013.2:g.18322G>C
  • NM_000546.6:c.734G>CMANE SELECT
  • NM_001126112.3:c.734G>C
  • NM_001126113.3:c.734G>C
  • NM_001126114.3:c.734G>C
  • NM_001126115.2:c.338G>C
  • NM_001126116.2:c.338G>C
  • NM_001126117.2:c.338G>C
  • NM_001126118.2:c.617G>C
  • NM_001276695.3:c.617G>C
  • NM_001276696.3:c.617G>C
  • NM_001276697.3:c.257G>C
  • NM_001276698.3:c.257G>C
  • NM_001276699.3:c.257G>C
  • NM_001276760.3:c.617G>C
  • NM_001276761.3:c.617G>C
  • NP_000537.3:p.Gly245Ala
  • NP_001119584.1:p.Gly245Ala
  • NP_001119585.1:p.Gly245Ala
  • NP_001119586.1:p.Gly245Ala
  • NP_001119587.1:p.Gly113Ala
  • NP_001119588.1:p.Gly113Ala
  • NP_001119589.1:p.Gly113Ala
  • NP_001119590.1:p.Gly206Ala
  • NP_001263624.1:p.Gly206Ala
  • NP_001263625.1:p.Gly206Ala
  • NP_001263626.1:p.Gly86Ala
  • NP_001263627.1:p.Gly86Ala
  • NP_001263628.1:p.Gly86Ala
  • NP_001263689.1:p.Gly206Ala
  • NP_001263690.1:p.Gly206Ala
  • LRG_321:g.18322G>C
  • NC_000017.10:g.7577547C>G
  • NM_000546.4:c.734G>C
  • P04637:p.Gly245Ala
Protein change:
G113A
Links:
UniProtKB: P04637#VAR_005971; dbSNP: rs121912656
NCBI 1000 Genomes Browser:
rs121912656
Molecular consequence:
  • NM_000546.6:c.734G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.734G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.734G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.734G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126115.2:c.338G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126116.2:c.338G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126117.2:c.338G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.617G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.3:c.617G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.3:c.617G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276697.3:c.257G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276698.3:c.257G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276699.3:c.257G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.617G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.617G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Adrenal cortex carcinoma
Synonyms:
Adrenocortical carcinoma
Identifiers:
MONDO: MONDO:0006639; MeSH: D018268; MedGen: C0206686; Human Phenotype Ontology: HP:0006744

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004046837Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University
no assertion criteria provided
Likely pathogenicsomaticclinical testing

Help

Summary from all submissions

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

Details of each submission

From Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University, SCV004046837.1

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

Last Updated: Nov 10, 2024