U.S. flag

An official website of the United States government

NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND B-cell chronic lymphocytic leukemia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 19, 2021
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:
RCV001527468.4

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:
B-cell chronic lymphocytic leukemia
Synonyms:
Chronic lymphocytic leukemia; Leukemia, B-cell, chronic; Chronic lymphatic leukemia
Identifiers:
MONDO: MONDO:0004948; MeSH: D015451; MedGen: C0023434; Orphanet: 67038; OMIM: 151400; Human Phenotype Ontology: HP:0005550

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001738485University Health Network, Princess Margaret Cancer Centre
no assertion criteria provided
Pathogenic
(Mar 19, 2021) 		somaticclinical testing

Help

Summary from all submissions

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

Details of each submission

From University Health Network, Princess Margaret Cancer Centre, SCV001738485.1

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

Last Updated: Aug 25, 2024