NM_000546.6(TP53):c.634T>A (p.Phe212Ile) AND Li-Fraumeni syndrome 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 18, 2022
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:: RCV002289643.2

Allele description [Variation Report for NM_000546.6(TP53):c.634T>A (p.Phe212Ile)]

NM_000546.6(TP53):c.634T>A (p.Phe212Ile)

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.634T>A (p.Phe212Ile)

HGVS:

NC_000017.11:g.7674897A>T
NG_017013.2:g.17654T>A
NM_000546.6:c.634T>AMANE SELECT
NM_001126112.3:c.634T>A
NM_001126113.3:c.634T>A
NM_001126114.3:c.634T>A
NM_001126115.2:c.238T>A
NM_001126116.2:c.238T>A
NM_001126117.2:c.238T>A
NM_001126118.2:c.517T>A
NM_001276695.3:c.517T>A
NM_001276696.3:c.517T>A
NM_001276697.3:c.157T>A
NM_001276698.3:c.157T>A
NM_001276699.3:c.157T>A
NM_001276760.3:c.517T>A
NM_001276761.3:c.517T>A
NP_000537.3:p.Phe212Ile
NP_000537.3:p.Phe212Ile
NP_001119584.1:p.Phe212Ile
NP_001119585.1:p.Phe212Ile
NP_001119586.1:p.Phe212Ile
NP_001119587.1:p.Phe80Ile
NP_001119588.1:p.Phe80Ile
NP_001119589.1:p.Phe80Ile
NP_001119590.1:p.Phe173Ile
NP_001263624.1:p.Phe173Ile
NP_001263625.1:p.Phe173Ile
NP_001263626.1:p.Phe53Ile
NP_001263627.1:p.Phe53Ile
NP_001263628.1:p.Phe53Ile
NP_001263689.1:p.Phe173Ile
NP_001263690.1:p.Phe173Ile
LRG_321t1:c.634T>A
LRG_321:g.17654T>A
LRG_321p1:p.Phe212Ile
NC_000017.10:g.7578215A>T
NM_000546.4:c.634T>A
NM_000546.5:c.634T>A

Protein change:

F173I

Links:

dbSNP: rs1064795766

NCBI 1000 Genomes Browser:

rs1064795766

Molecular consequence:

NM_000546.6:c.634T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.634T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126113.3:c.634T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126114.3:c.634T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126115.2:c.238T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126116.2:c.238T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126117.2:c.238T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.2:c.517T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276695.3:c.517T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276696.3:c.517T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276697.3:c.157T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276698.3:c.157T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276699.3:c.157T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.3:c.517T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.3:c.517T>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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sterol 3-beta-glucosyltransferase UGT80A2 isoform X4 [Oryza sativa Japonica Grou...
sterol 3-beta-glucosyltransferase UGT80A2 isoform X4 [Oryza sativa Japonica Group]
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002582247	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 18, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002582247

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jun 18, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genome-Nilou Lab, SCV002582247.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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