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NM_000546.6(TP53):c.1015G>T (p.Glu339Ter) AND Li-Fraumeni syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 20, 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:
RCV000505616.4

Allele description [Variation Report for NM_000546.6(TP53):c.1015G>T (p.Glu339Ter)]

NM_000546.6(TP53):c.1015G>T (p.Glu339Ter)

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.1015G>T (p.Glu339Ter)
HGVS:
  • NC_000017.11:g.7670694C>A
  • NG_017013.2:g.21857G>T
  • NM_000546.6:c.1015G>TMANE SELECT
  • NM_001126112.3:c.1015G>T
  • NM_001126113.3:c.*34G>T
  • NM_001126114.3:c.*122G>T
  • NM_001126115.2:c.619G>T
  • NM_001126116.2:c.*122G>T
  • NM_001126117.2:c.*34G>T
  • NM_001126118.2:c.898G>T
  • NM_001276695.3:c.*34G>T
  • NM_001276696.3:c.*122G>T
  • NM_001276697.3:c.538G>T
  • NM_001276698.3:c.*122G>T
  • NM_001276699.3:c.*34G>T
  • NM_001276760.3:c.898G>T
  • NM_001276761.3:c.898G>T
  • NP_000537.3:p.Glu339Ter
  • NP_000537.3:p.Glu339Ter
  • NP_001119584.1:p.Glu339Ter
  • NP_001119587.1:p.Glu207Ter
  • NP_001119590.1:p.Glu300Ter
  • NP_001263626.1:p.Glu180Ter
  • NP_001263689.1:p.Glu300Ter
  • NP_001263690.1:p.Glu300Ter
  • LRG_321t1:c.1015G>T
  • LRG_321t8:c.898G>T
  • LRG_321:g.21857G>T
  • LRG_321p1:p.Glu339Ter
  • NC_000017.10:g.7574012C>A
  • NM_000546.4:c.1015G>T
  • NM_000546.5:c.1015G>T
Protein change:
E180*
Links:
dbSNP: rs17882252
NCBI 1000 Genomes Browser:
rs17882252
Molecular consequence:
  • NM_001126113.3:c.*34G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001126114.3:c.*122G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001126116.2:c.*122G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001126117.2:c.*34G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276695.3:c.*34G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276696.3:c.*122G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276698.3:c.*122G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276699.3:c.*34G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000546.6:c.1015G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001126112.3:c.1015G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001126115.2:c.619G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001126118.2:c.898G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001276697.3:c.538G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001276760.3:c.898G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001276761.3:c.898G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Li-Fraumeni syndrome 1 (LFS)
Identifiers:
Gene: 553989; MedGen: C1835398; Orphanet: 524; OMIM: 151623

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000599868Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
no assertion criteria provided
Pathogenic
(Apr 20, 2017) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare, SCV000599868.1

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

Last Updated: Sep 16, 2024