U.S. flag

An official website of the United States government

NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Poly (ADP-Ribose) polymerase inhibitor response

Germline classification:
drug response (1 submission)
Last evaluated:
Nov 27, 2017
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:
RCV000626448.4

Allele description [Variation Report for NM_000546.6(TP53):c.638G>A (p.Arg213Gln)]

NM_000546.6(TP53):c.638G>A (p.Arg213Gln)

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.638G>A (p.Arg213Gln)
HGVS:
  • NC_000017.11:g.7674893C>T
  • NG_017013.2:g.17658G>A
  • NM_000546.6:c.638G>AMANE SELECT
  • NM_001126112.3:c.638G>A
  • NM_001126113.3:c.638G>A
  • NM_001126114.3:c.638G>A
  • NM_001126115.2:c.242G>A
  • NM_001126116.2:c.242G>A
  • NM_001126117.2:c.242G>A
  • NM_001126118.2:c.521G>A
  • NM_001276695.3:c.521G>A
  • NM_001276696.3:c.521G>A
  • NM_001276697.3:c.161G>A
  • NM_001276698.3:c.161G>A
  • NM_001276699.3:c.161G>A
  • NM_001276760.3:c.521G>A
  • NM_001276761.3:c.521G>A
  • NP_000537.3:p.Arg213Gln
  • NP_000537.3:p.Arg213Gln
  • NP_001119584.1:p.Arg213Gln
  • NP_001119585.1:p.Arg213Gln
  • NP_001119586.1:p.Arg213Gln
  • NP_001119587.1:p.Arg81Gln
  • NP_001119588.1:p.Arg81Gln
  • NP_001119589.1:p.Arg81Gln
  • NP_001119590.1:p.Arg174Gln
  • NP_001263624.1:p.Arg174Gln
  • NP_001263625.1:p.Arg174Gln
  • NP_001263626.1:p.Arg54Gln
  • NP_001263627.1:p.Arg54Gln
  • NP_001263628.1:p.Arg54Gln
  • NP_001263689.1:p.Arg174Gln
  • NP_001263690.1:p.Arg174Gln
  • LRG_321t1:c.638G>A
  • LRG_321:g.17658G>A
  • LRG_321p1:p.Arg213Gln
  • NC_000017.10:g.7578211C>T
  • NM_000546.4:c.638G>A
  • NM_000546.5:c.638G>A
  • P04637:p.Arg213Gln
  • p.R213Q
Protein change:
R174Q
Links:
UniProtKB: P04637#VAR_005955; dbSNP: rs587778720
NCBI 1000 Genomes Browser:
rs587778720
Molecular consequence:
  • NM_000546.6:c.638G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.638G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.638G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.638G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126115.2:c.242G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126116.2:c.242G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126117.2:c.242G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.521G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.3:c.521G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.3:c.521G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276697.3:c.161G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276698.3:c.161G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276699.3:c.161G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.521G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.521G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Poly (ADP-Ribose) polymerase inhibitor response
Synonyms:
PARP Inhibitor response
Identifiers:
MedGen: CN322715

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
SCV000734838Oxford Haemato-Oncology Service, Oxford University Hospitals NHS Foundation Trust
no assertion criteria provided
drug response
(Nov 27, 2017)
Condition: PARP Inhibitor response
Drug reported used for: Cancer		somaticclinical testing

Help

Summary from all submissions

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

Details of each submission

From Oxford Haemato-Oncology Service, Oxford University Hospitals NHS Foundation Trust, SCV000734838.1

#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: May 12, 2024