NM_000546.5(TP53):c.917G>A (p.Arg306Gln) AND Familial cancer of breast

Clinical significance:Uncertain significance (Last evaluated: Jun 13, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000664300.1

Allele description [Variation Report for NM_000546.5(TP53):c.917G>A (p.Arg306Gln)]

NM_000546.5(TP53):c.917G>A (p.Arg306Gln)

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.917G>A (p.Arg306Gln)
HGVS:
  • NC_000017.11:g.7673703C>T
  • NG_017013.2:g.18848G>A
  • NM_000546.5:c.917G>A
  • NM_001126112.2:c.917G>A
  • NM_001126113.2:c.917G>A
  • NM_001126114.2:c.917G>A
  • NM_001126115.1:c.521G>A
  • NM_001126116.1:c.521G>A
  • NM_001126117.1:c.521G>A
  • NM_001126118.1:c.800G>A
  • NM_001276695.2:c.800G>A
  • NM_001276696.2:c.800G>A
  • NM_001276697.2:c.440G>A
  • NM_001276698.2:c.440G>A
  • NM_001276699.2:c.440G>A
  • NM_001276760.2:c.800G>A
  • NM_001276761.2:c.800G>A
  • NP_000537.3:p.Arg306Gln
  • NP_001119584.1:p.Arg306Gln
  • NP_001119585.1:p.Arg306Gln
  • NP_001119586.1:p.Arg306Gln
  • NP_001119587.1:p.Arg174Gln
  • NP_001119588.1:p.Arg174Gln
  • NP_001119589.1:p.Arg174Gln
  • NP_001119590.1:p.Arg267Gln
  • NP_001263624.1:p.Arg267Gln
  • NP_001263625.1:p.Arg267Gln
  • NP_001263626.1:p.Arg147Gln
  • NP_001263627.1:p.Arg147Gln
  • NP_001263628.1:p.Arg147Gln
  • NP_001263689.1:p.Arg267Gln
  • NP_001263690.1:p.Arg267Gln
  • LRG_321t1:c.917G>A
  • LRG_321t2:c.917G>A
  • LRG_321t3:c.917G>A
  • LRG_321t4:c.917G>A
  • LRG_321t5:c.521G>A
  • LRG_321t6:c.521G>A
  • LRG_321t7:c.521G>A
  • LRG_321t8:c.800G>A
  • LRG_321:g.18848G>A
  • LRG_321:p.Arg306Gln
  • LRG_321p1:p.Arg306Gln
  • LRG_321p3:p.Arg306Gln
  • LRG_321p4:p.Arg306Gln
  • LRG_321p5:p.Arg174Gln
  • LRG_321p6:p.Arg174Gln
  • LRG_321p7:p.Arg174Gln
  • LRG_321p8:p.Arg267Gln
  • NC_000017.10:g.7577021C>T
  • NM_000546.4:c.917G>A
Protein change:
R147Q
Links:
dbSNP: rs1048095040
NCBI 1000 Genomes Browser:
rs1048095040
Molecular consequence:
  • NM_000546.5:c.917G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.2:c.917G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.2:c.917G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.2:c.917G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126115.1:c.521G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126116.1:c.521G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126117.1:c.521G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.1:c.800G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.2:c.800G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.2:c.800G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276697.2:c.440G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276698.2:c.440G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276699.2:c.440G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.2:c.800G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.2:c.800G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; CHEK2-Related Breast Cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000788229University of Washington Department of Laboratory Medicine, University of Washingtoncriteria provided, single submitter
Uncertain significance
(Jun 13, 2017)
germlineresearch

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil.

Giacomazzi J, Graudenz MS, Osorio CA, Koehler-Santos P, Palmero EI, Zagonel-Oliveira M, Michelli RA, Scapulatempo Neto C, Fernandes GC, Achatz MI, Martel-Planche G, Soares FA, Caleffi M, Goldim JR, Hainaut P, Camey SA, Ashton-Prolla P.

PLoS One. 2014;9(6):e99893. doi: 10.1371/journal.pone.0099893.

PubMed [citation]
PMID:
24936644
PMCID:
PMC4061038

Germline TP53 mutational spectrum in French Canadians with breast cancer.

Arcand SL, Akbari MR, Mes-Masson AM, Provencher D, Foulkes WD, Narod SA, Tonin PN.

BMC Med Genet. 2015 Apr 12;16:24. doi: 10.1186/s12881-015-0169-y.

PubMed [citation]
PMID:
25925845
PMCID:
PMC4436120
See all PubMed Citations (4)

Details of each submission

From University of Washington Department of Laboratory Medicine, University of Washington, SCV000788229.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (4)

Description

The TP53 variant designated as NM_000546.5:c.917G>A (p.Arg306Gln) is classified as variant of uncertain significance in the context of famiial breast cancer. Loss of heterozygosity was seen in the tumor of an affected individual with breast cancer in one family, which provides evidence for pathogenicity. Some TP53 missense variants have been associated with somewhat increased risk of breast cancer, but do not cause the high cancer risk associated with truncating TP53 variants (Giacomazzi et al., 2014, PMID:24936644; Arcand et al., 2015, PMID:25925845; Zick et al., 2016, PMID:27866339). Exact breast cancer penetrance for these variants has not been established. For the TP53 p.Arg306Gln variant, family co-segregation analysis assuming low penetrance gives a likelihood ratio of 0.34 using the Thompson et al. cosegregation method (PMID:12900794). This likelihood ratio is less than one, indicating that the variant is less likely to be associated with breast cancer risk. The TP53 p.Arg306Gln variant has not previously been reported in ClinVar. It is at a moderately conserved genomic position. A modest increase in breast cancer risk due to this variant cannot be entirely excluded. This variant is considered a variant of uncertain significance in the context of breast cancer risk. This analysis was performed in conjunction with the family studies project as part of the University of Washington Find My Variant Study.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 12, 2021

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