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NM_000546.5(TP53):c.422G>A (p.Cys141Tyr) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 2012
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:
RCV000128975.2

Allele description

NM_000546.5(TP53):c.422G>A (p.Cys141Tyr)

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.422G>A (p.Cys141Tyr)
HGVS:
  • NC_000017.11:g.7675190C>T
  • NG_017013.2:g.17361G>A
  • NM_000546.5:c.422G>A
  • NM_001126112.2:c.422G>A
  • NM_001126113.2:c.422G>A
  • NM_001126114.2:c.422G>A
  • NM_001126115.1:c.26G>A
  • NM_001126116.1:c.26G>A
  • NM_001126117.1:c.26G>A
  • NM_001126118.1:c.305G>A
  • NM_001276697.1:c.-56G>A
  • NP_000537.3:p.Cys141Tyr
  • NP_001119584.1:p.Cys141Tyr
  • NP_001119585.1:p.Cys141Tyr
  • NP_001119586.1:p.Cys141Tyr
  • NP_001119587.1:p.Cys9Tyr
  • NP_001119588.1:p.Cys9Tyr
  • NP_001119589.1:p.Cys9Tyr
  • NP_001119590.1:p.Cys102Tyr
  • LRG_321t1:c.422G>A
  • LRG_321t2:c.422G>A
  • LRG_321t3:c.422G>A
  • LRG_321t4:c.422G>A
  • LRG_321t5:c.26G>A
  • LRG_321t6:c.26G>A
  • LRG_321t7:c.26G>A
  • LRG_321t8:c.305G>A
  • LRG_321:g.17361G>A
  • LRG_321p1:p.Cys141Tyr
  • LRG_321p3:p.Cys141Tyr
  • LRG_321p4:p.Cys141Tyr
  • LRG_321p5:p.Cys9Tyr
  • LRG_321p6:p.Cys9Tyr
  • LRG_321p7:p.Cys9Tyr
  • LRG_321p8:p.Cys102Tyr
  • NC_000017.10:g.7578508C>T
  • NM_000546.4:c.422G>A
  • p.C141Y
Protein change:
C102Y
Links:
dbSNP: rs587781288
NCBI 1000 Genomes Browser:
rs587781288
Molecular consequence:
  • NM_001276697.1:c.-56G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000546.5:c.422G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:
MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000172861Ambry Genetics,
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (9/4/14))		Pathogenic
(Oct 1, 2012) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics,, SCV000172861.2

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

Last Updated: Aug 29, 2016