NM_000546.6(TP53):c.1066G>C (p.Gly356Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 23, 2018
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:: RCV000781911.3

Allele description [Variation Report for NM_000546.6(TP53):c.1066G>C (p.Gly356Arg)]

NM_000546.6(TP53):c.1066G>C (p.Gly356Arg)

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.1066G>C (p.Gly356Arg)

Other names:

NM_000546.5(TP53):c.1066G>C; p.Gly356Arg

HGVS:

NC_000017.11:g.7670643C>G
NG_017013.2:g.21908G>C
NM_000546.6:c.1066G>CMANE SELECT
NM_001126112.3:c.1066G>C
NM_001126113.3:c.*85G>C
NM_001126114.3:c.*173G>C
NM_001126115.2:c.670G>C
NM_001126116.2:c.*173G>C
NM_001126117.2:c.*85G>C
NM_001126118.2:c.949G>C
NM_001276695.3:c.*85G>C
NM_001276696.3:c.*173G>C
NM_001276697.3:c.589G>C
NM_001276698.3:c.*173G>C
NM_001276699.3:c.*85G>C
NM_001276760.3:c.949G>C
NM_001276761.3:c.949G>C
NP_000537.3:p.Gly356Arg
NP_000537.3:p.Gly356Arg
NP_001119584.1:p.Gly356Arg
NP_001119587.1:p.Gly224Arg
NP_001119590.1:p.Gly317Arg
NP_001263626.1:p.Gly197Arg
NP_001263689.1:p.Gly317Arg
NP_001263690.1:p.Gly317Arg
LRG_321t1:c.1066G>C
LRG_321:g.21908G>C
LRG_321p1:p.Gly356Arg
NC_000017.10:g.7573961C>G
NM_000546.4:c.1066G>C
NM_000546.5:c.1066G>C

Protein change:

G197R

Links:

dbSNP: rs766786605

NCBI 1000 Genomes Browser:

rs766786605

Molecular consequence:

NM_001126113.3:c.*85G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001126114.3:c.*173G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001126116.2:c.*173G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001126117.2:c.*85G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001276695.3:c.*85G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001276696.3:c.*173G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001276698.3:c.*173G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001276699.3:c.*85G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_000546.6:c.1066G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.1066G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001126115.2:c.670G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.2:c.949G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001276697.3:c.589G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.3:c.949G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.3:c.949G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000920315	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Feb 23, 2018)	germline	clinical testing	PubMed (11) [See all records that cite these PMIDs] 27895058, 26230955, 21519010, 27463065, 30327374, 21343334, 25952993, 22186996, 27680515, 27959731, 28861920 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000920315

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Feb 23, 2018)

germline

clinical testing

PubMed (11)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel.

Döhner H, Estey E, Grimwade D, Amadori S, Appelbaum FR, Büchner T, Dombret H, Ebert BL, Fenaux P, Larson RA, Levine RL, Lo-Coco F, Naoe T, Niederwieser D, Ossenkoppele GJ, Sanz M, Sierra J, Tallman MS, Tien HF, Wei AH, Löwenberg B, Bloomfield CD.

Blood. 2017 Jan 26;129(4):424-447. doi: 10.1182/blood-2016-08-733196. Epub 2016 Nov 28. Review.

PubMed [citation]

PMID:: 27895058
PMCID:: PMC5291965

TP53 mutations in de novo acute myeloid leukemia patients: longitudinal follow-ups show the mutation is stable during disease evolution.

Hou HA, Chou WC, Kuo YY, Liu CY, Lin LI, Tseng MH, Chiang YC, Liu MC, Liu CW, Tang JL, Yao M, Li CC, Huang SY, Ko BS, Hsu SC, Chen CY, Lin CT, Wu SJ, Tsay W, Chen YC, Tien HF.

Blood Cancer J. 2015 Jul 31;5:e331. doi: 10.1038/bcj.2015.59.

PubMed [citation]

PMID:: 26230955
PMCID:: PMC4526785

See all PubMed Citations (11)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000920315.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (11)

Description

Variant summary: TP53 c.1066G>C (p.Gly356Arg) results in a non-conservative amino acid change located in the p53, tetramerisation domain of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4.1e-06 in 245622 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. The c.1066G>C variant has been reported in the literature, but this report does not provide strong evidence about an association of the variant with Li-Fraumeni Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

#	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

Last Updated: Nov 10, 2024

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