NM_000546.6(TP53):c.642T>G (p.His214Gln) 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:: RCV000410083.12

Allele description [Variation Report for NM_000546.6(TP53):c.642T>G (p.His214Gln)]

NM_000546.6(TP53):c.642T>G (p.His214Gln)

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.642T>G (p.His214Gln)

Other names:

p.H214Q:CAT>CAG

HGVS:

NC_000017.11:g.7674889A>C
NG_017013.2:g.17662T>G
NM_000546.6:c.642T>GMANE SELECT
NM_001126112.3:c.642T>G
NM_001126113.3:c.642T>G
NM_001126114.3:c.642T>G
NM_001126115.2:c.246T>G
NM_001126116.2:c.246T>G
NM_001126117.2:c.246T>G
NM_001126118.2:c.525T>G
NM_001276695.3:c.525T>G
NM_001276696.3:c.525T>G
NM_001276697.3:c.165T>G
NM_001276698.3:c.165T>G
NM_001276699.3:c.165T>G
NM_001276760.3:c.525T>G
NM_001276761.3:c.525T>G
NP_000537.3:p.His214Gln
NP_000537.3:p.His214Gln
NP_001119584.1:p.His214Gln
NP_001119585.1:p.His214Gln
NP_001119586.1:p.His214Gln
NP_001119587.1:p.His82Gln
NP_001119588.1:p.His82Gln
NP_001119589.1:p.His82Gln
NP_001119590.1:p.His175Gln
NP_001263624.1:p.His175Gln
NP_001263625.1:p.His175Gln
NP_001263626.1:p.His55Gln
NP_001263627.1:p.His55Gln
NP_001263628.1:p.His55Gln
NP_001263689.1:p.His175Gln
NP_001263690.1:p.His175Gln
LRG_321t1:c.642T>G
LRG_321:g.17662T>G
LRG_321p1:p.His214Gln
NC_000017.10:g.7578207A>C
NM_000546.4:c.642T>G
NM_000546.5:c.642T>G
P04637:p.His214Gln
p.H214Q

Protein change:

H175Q

Links:

UniProtKB: P04637#VAR_047177; dbSNP: rs587781386

NCBI 1000 Genomes Browser:

rs587781386

Molecular consequence:

NM_000546.6:c.642T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.642T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126113.3:c.642T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126114.3:c.642T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126115.2:c.246T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126116.2:c.246T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126117.2:c.246T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.2:c.525T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276695.3:c.525T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276696.3:c.525T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276697.3:c.165T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276698.3:c.165T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276699.3:c.165T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.3:c.525T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.3:c.525T>G - 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
SCV000488187	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Jan 22, 2016)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 12826609, 23259501, 15781620 Counsyl Autosomal Dominant Disease Classification criteria (2015), Citation Link,
SCV004017885	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

SCV000488187

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Uncertain significance
(Jan 22, 2016)

unknown

clinical testing

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

Counsyl Autosomal Dominant Disease Classification criteria (2015),

Citation Link,

SCV004017885

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

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

Number of rare germline CNVs and TP53 mutation types.

Silva AG, Achatz IM, Krepischi AC, Pearson PL, Rosenberg C.

Orphanet J Rare Dis. 2012 Dec 21;7:101. doi: 10.1186/1750-1172-7-101.

PubMed [citation]

PMID:: 23259501
PMCID:: PMC3558401

See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000488187.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	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., SCV004017885.1

#	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: Nov 3, 2024

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