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NM_000546.6(TP53):c.818G>A (p.Arg273His) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 18, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000515210.1

Allele description

NM_000546.6(TP53):c.818G>A (p.Arg273His)

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.818G>A (p.Arg273His)
Other names:
p.R273H:CGT>CAT
HGVS:
  • NC_000017.11:g.7673802C>T
  • NG_017013.2:g.18749G>A
  • NM_000546.6:c.818G>AMANE SELECT
  • NM_001126112.3:c.818G>A
  • NM_001126113.3:c.818G>A
  • NM_001126114.3:c.818G>A
  • NM_001126115.2:c.422G>A
  • NM_001126116.2:c.422G>A
  • NM_001126117.2:c.422G>A
  • NM_001126118.2:c.701G>A
  • NM_001276695.3:c.701G>A
  • NM_001276696.3:c.701G>A
  • NM_001276697.3:c.341G>A
  • NM_001276698.3:c.341G>A
  • NM_001276699.3:c.341G>A
  • NM_001276760.3:c.701G>A
  • NM_001276761.3:c.701G>A
  • NP_000537.3:p.Arg273His
  • NP_000537.3:p.Arg273His
  • NP_001119584.1:p.Arg273His
  • NP_001119585.1:p.Arg273His
  • NP_001119586.1:p.Arg273His
  • NP_001119587.1:p.Arg141His
  • NP_001119587.1:p.Arg141His
  • NP_001119588.1:p.Arg141His
  • NP_001119589.1:p.Arg141His
  • NP_001119590.1:p.Arg234His
  • NP_001263624.1:p.Arg234His
  • NP_001263625.1:p.Arg234His
  • NP_001263626.1:p.Arg114His
  • NP_001263627.1:p.Arg114His
  • NP_001263628.1:p.Arg114His
  • NP_001263689.1:p.Arg234His
  • NP_001263690.1:p.Arg234His
  • LRG_321t1:c.818G>A
  • LRG_321t5:c.422G>A
  • LRG_321:g.18749G>A
  • LRG_321p1:p.Arg273His
  • LRG_321p5:p.Arg141His
  • NC_000017.10:g.7577120C>T
  • NM_000546.4:c.818G>A
  • NM_000546.5(TP53):c.818G>A
  • NM_000546.5:c.818G>A
  • NM_001126115.1:c.422G>A
  • P04637:p.Arg273His
  • p.R273H
Protein change:
R114H; ARG273HIS
Links:
UniProtKB: P04637#VAR_005995; OMIM: 191170.0020; dbSNP: rs28934576
Molecular consequence:
  • NM_000546.6:c.818G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.818G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.818G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.818G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126115.2:c.422G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126116.2:c.422G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126117.2:c.422G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.3:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.3:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276697.3:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276698.3:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276699.3:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Adrenocortical carcinoma, hereditary (ADCC)
Identifiers:
MONDO: MONDO:0008734; MedGen: C1859972; Orphanet: 1501; OMIM: 202300
Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480
Name:
Glioma susceptibility 1 (GLM1)
Synonyms:
Glioblastoma, somatic
Identifiers:
MONDO: MONDO:0024498; MedGen: C2750850; OMIM: 137800
Name:
Bone osteosarcoma
Synonyms:
Osteosarcoma, somatic
Identifiers:
MONDO: MONDO:0002629; MeSH: D012516; MedGen: C0585442; Orphanet: 668; OMIM: 259500
Name:
Li-Fraumeni syndrome 1 (LFS)
Identifiers:
Gene: 553989; MONDO: MONDO:0007903; MedGen: C1835398; Orphanet: 524; OMIM: 151623
Name:
Nasopharyngeal carcinoma
Synonyms:
Nasopharyngeal carcinoma, somatic
Identifiers:
MONDO: MONDO:0015459; MedGen: C2931822; Orphanet: 150; OMIM: 607107
Name:
Carcinoma of pancreas
Synonyms:
PANCREATIC ACINAR CARCINOMA; PANCREATIC CARCINOMA; Pancreatic cancer, somatic; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0005192; MeSH: C562463; MedGen: C0235974; Orphanet: 1333; OMIM: 260350
Name:
Choroid plexus papilloma (CPP)
Synonyms:
Papilloma of choroid plexus
Identifiers:
MONDO: MONDO:0009837; MedGen: C0205770; Orphanet: 251899; OMIM: 260500; Human Phenotype Ontology: HP:0200022
Name:
Carcinoma of colon (CRC)
Synonyms:
Colonic carcinoma; Colon carcinoma
Identifiers:
MONDO: MONDO:0002032; MedGen: C0699790
Name:
Basal cell carcinoma, susceptibility to, 7 (BCC7)
Identifiers:
MONDO: MONDO:0013876; MedGen: C3553606; OMIM: 614740
Name:
Hepatocellular carcinoma (HCC)
Synonyms:
Primary carcinoma of liver; Hepatoma; LIVER CELL CARCINOMA; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007256; MedGen: C2239176; OMIM: 114550; Human Phenotype Ontology: HP:0001402

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000611327Fulgent Genetics,Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 18, 2017) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics,Fulgent Genetics, SCV000611327.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 18, 2022

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