NM_000546.6(TP53):c.892G>A (p.Glu298Lys) AND Li-Fraumeni syndrome 1

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 11, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000411322.4

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]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000488500	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Apr 14, 2016)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 25896519, 17311302, 21747090, 21288114 Counsyl Autosomal Dominant Disease Classification criteria (2015), Citation Link,
SCV004017845	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Uncertain significance (Apr 11, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000488500

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Uncertain significance
(Apr 14, 2016)

unknown

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Counsyl Autosomal Dominant Disease Classification criteria (2015),

Citation Link,

SCV004017845

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Uncertain significance
(Apr 11, 2023)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Germline TP53 variants and susceptibility to osteosarcoma.

Mirabello L, Yeager M, Mai PL, Gastier-Foster JM, Gorlick R, Khanna C, Patiño-Garcia A, Sierrasesúmaga L, Lecanda F, Andrulis IL, Wunder JS, Gokgoz N, Barkauskas DA, Zhang X, Vogt A, Jones K, Boland JF, Chanock SJ, Savage SA.

J Natl Cancer Inst. 2015 Apr 20;107(7). doi:pii: djv101. 10.1093/jnci/djv101. Print 2015 Jul.

PubMed [citation]

PMID:: 25896519
PMCID:: PMC4651039

Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database.

Petitjean A, Mathe E, Kato S, Ishioka C, Tavtigian SV, Hainaut P, Olivier M.

Hum Mutat. 2007 Jun;28(6):622-9.

PubMed [citation]

PMID:: 17311302

See all PubMed Citations (4)

Details of each submission

From Counsyl, SCV000488500.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

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

From Myriad Genetics, Inc., SCV004017845.1

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

Description

This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.

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

Last Updated: Oct 20, 2024

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