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NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND Acute myeloid leukemia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 2, 2014
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:
RCV000439645.3

Allele description [Variation Report for NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)]

NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)

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.659A>G (p.Tyr220Cys)
Other names:
p.Y220C:TAT>TGT; NM_000546.6(TP53):c.659A>G
HGVS:
  • NC_000017.11:g.7674872T>C
  • NG_017013.2:g.17679A>G
  • NM_000546.6:c.659A>GMANE SELECT
  • NM_001126112.3:c.659A>G
  • NM_001126113.3:c.659A>G
  • NM_001126114.3:c.659A>G
  • NM_001126115.2:c.263A>G
  • NM_001126116.2:c.263A>G
  • NM_001126117.2:c.263A>G
  • NM_001126118.2:c.542A>G
  • NM_001276695.3:c.542A>G
  • NM_001276696.3:c.542A>G
  • NM_001276697.3:c.182A>G
  • NM_001276698.3:c.182A>G
  • NM_001276699.3:c.182A>G
  • NM_001276760.3:c.542A>G
  • NM_001276761.3:c.542A>G
  • NP_000537.3:p.Tyr220Cys
  • NP_000537.3:p.Tyr220Cys
  • NP_001119584.1:p.Tyr220Cys
  • NP_001119585.1:p.Tyr220Cys
  • NP_001119586.1:p.Tyr220Cys
  • NP_001119587.1:p.Tyr88Cys
  • NP_001119588.1:p.Tyr88Cys
  • NP_001119589.1:p.Tyr88Cys
  • NP_001119590.1:p.Tyr181Cys
  • NP_001263624.1:p.Tyr181Cys
  • NP_001263625.1:p.Tyr181Cys
  • NP_001263626.1:p.Tyr61Cys
  • NP_001263627.1:p.Tyr61Cys
  • NP_001263628.1:p.Tyr61Cys
  • NP_001263689.1:p.Tyr181Cys
  • NP_001263690.1:p.Tyr181Cys
  • LRG_321t1:c.659A>G
  • LRG_321:g.17679A>G
  • LRG_321p1:p.Tyr220Cys
  • NC_000017.10:g.7578190T>C
  • NM_000546.4:c.659A>G
  • NM_000546.5(TP53):c.659A>G
  • NM_000546.5:c.659A>G
  • P04637:p.Tyr220Cys
  • p.Y220C
Protein change:
Y181C
Links:
UniProtKB: P04637#VAR_005957; dbSNP: rs121912666
NCBI 1000 Genomes Browser:
rs121912666
Molecular consequence:
  • NM_000546.6:c.659A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.659A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.659A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.659A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126115.2:c.263A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126116.2:c.263A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126117.2:c.263A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.542A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.3:c.542A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.3:c.542A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276697.3:c.182A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276698.3:c.182A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276699.3:c.182A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.542A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.542A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Acute myeloid leukemia (AML)
Synonyms:
Acute myeloid leukemia, adult; AML adult; Acute myelogenous leukemia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018874; MeSH: D015470; MedGen: C0023467; Orphanet: 519; OMIM: 601626; Human Phenotype Ontology: HP:0004808

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000504721Database of Curated Mutations (DoCM)
no assertion criteria provided
Likely pathogenic
(Oct 2, 2014) 		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

Comprehensive analysis of genetic alterations and their prognostic impacts in adult acute myeloid leukemia patients.

Kihara R, Nagata Y, Kiyoi H, Kato T, Yamamoto E, Suzuki K, Chen F, Asou N, Ohtake S, Miyawaki S, Miyazaki Y, Sakura T, Ozawa Y, Usui N, Kanamori H, Kiguchi T, Imai K, Uike N, Kimura F, Kitamura K, Nakaseko C, Onizuka M, et al.

Leukemia. 2014 Aug;28(8):1586-95. doi: 10.1038/leu.2014.55. Epub 2014 Feb 3.

PubMed [citation]
PMID:
24487413

Haploinsufficiency of del(5q) genes, Egr1 and Apc, cooperate with Tp53 loss to induce acute myeloid leukemia in mice.

Stoddart A, Fernald AA, Wang J, Davis EM, Karrison T, Anastasi J, Le Beau MM.

Blood. 2014 Feb 13;123(7):1069-78. doi: 10.1182/blood-2013-07-517953. Epub 2013 Dec 31.

PubMed [citation]
PMID:
24381225
PMCID:
PMC3924928
See all PubMed Citations (3)

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504721.1

#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: Aug 25, 2024