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NM_000546.6(TP53):c.743G>A (p.Arg248Gln) AND Breast neoplasm

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:
RCV000419135.9

Allele description [Variation Report for NM_000546.6(TP53):c.743G>A (p.Arg248Gln)]

NM_000546.6(TP53):c.743G>A (p.Arg248Gln)

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.743G>A (p.Arg248Gln)
Other names:
p.R248Q:CGG>CAG; NM_000546.6(TP53):c.743G>A
HGVS:
  • NC_000017.11:g.7674220C>T
  • NG_017013.2:g.18331G>A
  • NM_000546.6:c.743G>AMANE SELECT
  • NM_001126112.3:c.743G>A
  • NM_001126113.3:c.743G>A
  • NM_001126114.3:c.743G>A
  • NM_001126115.2:c.347G>A
  • NM_001126116.2:c.347G>A
  • NM_001126117.2:c.347G>A
  • NM_001126118.2:c.626G>A
  • NM_001276695.3:c.626G>A
  • NM_001276696.3:c.626G>A
  • NM_001276697.3:c.266G>A
  • NM_001276698.3:c.266G>A
  • NM_001276699.3:c.266G>A
  • NM_001276760.3:c.626G>A
  • NM_001276761.3:c.626G>A
  • NP_000537.3:p.Arg248Gln
  • NP_000537.3:p.Arg248Gln
  • NP_001119584.1:p.Arg248Gln
  • NP_001119585.1:p.Arg248Gln
  • NP_001119586.1:p.Arg248Gln
  • NP_001119587.1:p.Arg116Gln
  • NP_001119588.1:p.Arg116Gln
  • NP_001119589.1:p.Arg116Gln
  • NP_001119590.1:p.Arg209Gln
  • NP_001263624.1:p.Arg209Gln
  • NP_001263625.1:p.Arg209Gln
  • NP_001263626.1:p.Arg89Gln
  • NP_001263627.1:p.Arg89Gln
  • NP_001263628.1:p.Arg89Gln
  • NP_001263689.1:p.Arg209Gln
  • NP_001263690.1:p.Arg209Gln
  • LRG_321t1:c.743G>A
  • LRG_321:g.18331G>A
  • LRG_321p1:p.Arg248Gln
  • NC_000017.10:g.7577538C>T
  • NM_000546.4:c.743G>A
  • NM_000546.5(TP53):c.743G>A
  • NM_000546.5:c.743G>A
  • P04637:p.Arg248Gln
  • p.R248Q
Protein change:
R116Q; ARG248GLN
Links:
UniProtKB: P04637#VAR_005983; OMIM: 191170.0010; dbSNP: rs11540652
NCBI 1000 Genomes Browser:
rs11540652
Molecular consequence:
  • NM_000546.6:c.743G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.743G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.743G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.743G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126115.2:c.347G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126116.2:c.347G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126117.2:c.347G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.626G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.3:c.626G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.3:c.626G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276697.3:c.266G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276698.3:c.266G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276699.3:c.266G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.626G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.626G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Breast neoplasm
Synonyms:
Neoplasm of breast; Breast tumor; Neoplasm of the breast; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0021100; MeSH: D001943; MedGen: C1458155; Human Phenotype Ontology: HP:0100013

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000504696Database of Curated Mutations (DoCM)
no assertion criteria provided
Likely pathogenic
(May 31, 2016) 		somaticliterature only

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Mutations in residues of TP53 that directly contact DNA predict poor outcome in human primary breast cancer.

Berns EM, van Staveren IL, Look MP, Smid M, Klijn JG, Foekens JA.

Br J Cancer. 1998 Apr;77(7):1130-6.

PubMed [citation]
PMID:
9569050
PMCID:
PMC2150115

The clinical value of somatic TP53 gene mutations in 1,794 patients with breast cancer.

Olivier M, Langerød A, Carrieri P, Bergh J, Klaar S, Eyfjord J, Theillet C, Rodriguez C, Lidereau R, Bièche I, Varley J, Bignon Y, Uhrhammer N, Winqvist R, Jukkola-Vuorinen A, Niederacher D, Kato S, Ishioka C, Hainaut P, Børresen-Dale AL.

Clin Cancer Res. 2006 Feb 15;12(4):1157-67.

PubMed [citation]
PMID:
16489069
See all PubMed Citations (3)

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504696.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024