NM_000546.6(TP53):c.892G>A (p.Glu298Lys) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Jan 1, 2022
Review status:: criteria provided, conflicting classifications

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:: RCV000986055.23

Allele description [Variation Report for NM_000546.6(TP53):c.892G>A (p.Glu298Lys)]

NM_000546.6(TP53):c.892G>A (p.Glu298Lys)

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.892G>A (p.Glu298Lys)

HGVS:

NC_000017.11:g.7673728C>T
NG_017013.2:g.18823G>A
NM_000546.6:c.892G>AMANE SELECT
NM_001126112.3:c.892G>A
NM_001126113.3:c.892G>A
NM_001126114.3:c.892G>A
NM_001126115.2:c.496G>A
NM_001126116.2:c.496G>A
NM_001126117.2:c.496G>A
NM_001126118.2:c.775G>A
NM_001276695.3:c.775G>A
NM_001276696.3:c.775G>A
NM_001276697.3:c.415G>A
NM_001276698.3:c.415G>A
NM_001276699.3:c.415G>A
NM_001276760.3:c.775G>A
NM_001276761.3:c.775G>A
NP_000537.3:p.Glu298Lys
NP_000537.3:p.Glu298Lys
NP_001119584.1:p.Glu298Lys
NP_001119585.1:p.Glu298Lys
NP_001119586.1:p.Glu298Lys
NP_001119587.1:p.Glu166Lys
NP_001119588.1:p.Glu166Lys
NP_001119589.1:p.Glu166Lys
NP_001119590.1:p.Glu259Lys
NP_001263624.1:p.Glu259Lys
NP_001263625.1:p.Glu259Lys
NP_001263626.1:p.Glu139Lys
NP_001263627.1:p.Glu139Lys
NP_001263628.1:p.Glu139Lys
NP_001263689.1:p.Glu259Lys
NP_001263690.1:p.Glu259Lys
LRG_321t1:c.892G>A
LRG_321:g.18823G>A
LRG_321p1:p.Glu298Lys
NC_000017.10:g.7577046C>T
NM_000546.4:c.892G>A
NM_000546.5(TP53):c.892G>A
NM_000546.5:c.892G>A
P04637:p.Glu298Lys
p.E298K

Protein change:

E139K

Links:

UniProtKB: P04637#VAR_045448; dbSNP: rs201744589

NCBI 1000 Genomes Browser:

rs201744589

Molecular consequence:

NM_000546.6:c.892G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.892G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126113.3:c.892G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126114.3:c.892G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126115.2:c.496G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126116.2:c.496G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126117.2:c.496G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.2:c.775G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276695.3:c.775G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276696.3:c.775G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276697.3:c.415G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276698.3:c.415G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276699.3:c.415G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.3:c.775G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.3:c.775G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001134879	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (Mar 4, 2019)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 16596195, 29056573, 21288114, 24952744, 28234344, 21747090, 26467025
SCV002498235	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Jan 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001134879

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Uncertain significance
(Mar 4, 2019)

germline

clinical testing

PubMed (7)
[See all records that cite these PMIDs]

SCV002498235

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Jan 1, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Gene mutation analysis of sinonasal lymphomas in Indonesia.

Kurniawan AN, Hongyo T, Hardjolukito ES, Ham MF, Takakuwa T, Kodariah R, Hoshida Y, Nomura T, Aozasa K.

Oncol Rep. 2006 May;15(5):1257-63.

PubMed [citation]

PMID:: 16596195

Noncoding RNA Expression and Targeted Next-Generation Sequencing Distinguish Tubulocystic Renal Cell Carcinoma (TC-RCC) from Other Renal Neoplasms.

Lawrie CH, Armesto M, Fernandez-Mercado M, Arestín M, Manterola L, Goicoechea I, Larrea E, Caffarel MM, Araujo AM, Sole C, Sperga M, Alvarado-Cabrero I, Michal M, Hes O, López JI.

J Mol Diagn. 2018 Jan;20(1):34-45. doi: 10.1016/j.jmoldx.2017.09.002. Epub 2017 Oct 19.

PubMed [citation]

PMID:: 29056573

See all PubMed Citations (7)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001134879.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV002498235.18

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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