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NM_000546.6(TP53):c.1182A>T (p.Ter394Cys) AND Li-Fraumeni syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 18, 2017
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:
RCV000551312.6

Allele description

NM_000546.6(TP53):c.1182A>T (p.Ter394Cys)

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.1182A>T (p.Ter394Cys)
Other names:
*262C; *355C; *394C; *235C
HGVS:
  • NC_000017.11:g.7669609T>A
  • NG_017013.2:g.22942A>T
  • NM_000546.6:c.1182A>TMANE SELECT
  • NM_001126112.3:c.1182A>T
  • NM_001126113.3:c.*201A>T
  • NM_001126114.3:c.*289A>T
  • NM_001126115.2:c.786A>T
  • NM_001126116.2:c.*289A>T
  • NM_001126117.2:c.*201A>T
  • NM_001126118.2:c.1065A>T
  • NM_001276695.3:c.*201A>T
  • NM_001276696.3:c.*289A>T
  • NM_001276697.3:c.705A>T
  • NM_001276698.3:c.*289A>T
  • NM_001276699.3:c.*201A>T
  • NM_001276760.3:c.1065A>T
  • NM_001276761.3:c.1065A>T
  • NP_000537.3:p.Ter394Cys
  • NP_000537.3:p.Ter394Cys
  • NP_001119584.1:p.Ter394Cys
  • NP_001119587.1:p.Ter262Cys
  • NP_001119590.1:p.Ter355Cys
  • NP_001263626.1:p.Ter235Cys
  • NP_001263689.1:p.Ter355Cys
  • NP_001263690.1:p.Ter355Cys
  • LRG_321t1:c.1182A>T
  • LRG_321:g.22942A>T
  • LRG_321p1:p.Ter394Cys
  • NC_000017.10:g.7572927T>A
  • NM_000546.5:c.1182A>T
Links:
dbSNP: rs1555524074
NCBI 1000 Genomes Browser:
rs1555524074
Molecular consequence:
  • NM_001126113.3:c.*201A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001126114.3:c.*289A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001126116.2:c.*289A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001126117.2:c.*201A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276695.3:c.*201A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276696.3:c.*289A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276698.3:c.*289A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276699.3:c.*201A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000546.6:c.1182A>T - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001126112.3:c.1182A>T - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001126115.2:c.786A>T - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001126118.2:c.1065A>T - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001276697.3:c.705A>T - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001276760.3:c.1065A>T - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001276761.3:c.1065A>T - stop lost - [Sequence Ontology: SO:0001578]

Condition(s)

Name:
Li-Fraumeni syndrome (LFS)
Synonyms:
Sarcoma family syndrome of Li and Fraumeni
Identifiers:
MONDO: MONDO:0018875; MedGen: C0085390; OMIM: PS151623

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000629782Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jun 18, 2017) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000629782.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted stop signal is currently unknown. This variant has not been reported in the literature in individuals with TP53-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change disrupts the translational stop signal of the TP53 mRNA. It is expected to extend the length of the TP53 protein by additional 9 amino acid residues (p.*394Cysext*9).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 28, 2024