U.S. flag

An official website of the United States government

NM_000546.6(TP53):c.978A>T (p.Glu326Asp) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 4, 2024
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:
RCV003584893.1

Allele description [Variation Report for NM_000546.6(TP53):c.978A>T (p.Glu326Asp)]

NM_000546.6(TP53):c.978A>T (p.Glu326Asp)

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.978A>T (p.Glu326Asp)
HGVS:
  • NC_000017.11:g.7673550T>A
  • NG_017013.2:g.19001A>T
  • NM_000546.6:c.978A>TMANE SELECT
  • NM_001126112.3:c.978A>T
  • NM_001126113.3:c.978A>T
  • NM_001126114.3:c.978A>T
  • NM_001126115.2:c.582A>T
  • NM_001126116.2:c.582A>T
  • NM_001126117.2:c.582A>T
  • NM_001126118.2:c.861A>T
  • NM_001276695.3:c.861A>T
  • NM_001276696.3:c.861A>T
  • NM_001276697.3:c.501A>T
  • NM_001276698.3:c.501A>T
  • NM_001276699.3:c.501A>T
  • NM_001276760.3:c.861A>T
  • NM_001276761.3:c.861A>T
  • NP_000537.3:p.Glu326Asp
  • NP_001119584.1:p.Glu326Asp
  • NP_001119585.1:p.Glu326Asp
  • NP_001119586.1:p.Glu326Asp
  • NP_001119587.1:p.Glu194Asp
  • NP_001119588.1:p.Glu194Asp
  • NP_001119589.1:p.Glu194Asp
  • NP_001119590.1:p.Glu287Asp
  • NP_001263624.1:p.Glu287Asp
  • NP_001263625.1:p.Glu287Asp
  • NP_001263626.1:p.Glu167Asp
  • NP_001263627.1:p.Glu167Asp
  • NP_001263628.1:p.Glu167Asp
  • NP_001263689.1:p.Glu287Asp
  • NP_001263690.1:p.Glu287Asp
  • LRG_321:g.19001A>T
  • NC_000017.10:g.7576868T>A
Protein change:
E167D
Links:
dbSNP: rs1000256867
NCBI 1000 Genomes Browser:
rs1000256867
Molecular consequence:
  • NM_000546.6:c.978A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.978A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.978A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.978A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126115.2:c.582A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126116.2:c.582A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126117.2:c.582A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.861A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.3:c.861A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.3:c.861A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276697.3:c.501A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276698.3:c.501A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276699.3:c.501A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.861A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.861A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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
SCV004359974Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 4, 2024) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.

Kato S, Han SY, Liu W, Otsuka K, Shibata H, Kanamaru R, Ishioka C.

Proc Natl Acad Sci U S A. 2003 Jul 8;100(14):8424-9. Epub 2003 Jun 25.

PubMed [citation]
PMID:
12826609
PMCID:
PMC166245

Mutational processes shape the landscape of TP53 mutations in human cancer.

Giacomelli AO, Yang X, Lintner RE, McFarland JM, Duby M, Kim J, Howard TP, Takeda DY, Ly SH, Kim E, Gannon HS, Hurhula B, Sharpe T, Goodale A, Fritchman B, Steelman S, Vazquez F, Tsherniak A, Aguirre AJ, Doench JG, Piccioni F, Roberts CWM, et al.

Nat Genet. 2018 Oct;50(10):1381-1387. doi: 10.1038/s41588-018-0204-y. Epub 2018 Sep 17.

PubMed [citation]
PMID:
30224644
PMCID:
PMC6168352
See all PubMed Citations (3)

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV004359974.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This missense variant replaces glutamic acid with aspartic acid at codon 326 of the TP53 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function. Functional studies have shown that this variant to be functional in yeast transcriptional transactivation studies and human cell growth suppression assays (PMID: 12826609, 30224644). To our knowledge, this variant has not been reported in individuals affected with TP53-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 29, 2024