NM_000546.6(TP53):c.1010G>C (p.Arg337Pro) AND Li-Fraumeni syndrome 1

Germline classification:: Likely pathogenic (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:: RCV002288666.2

Allele description [Variation Report for NM_000546.6(TP53):c.1010G>C (p.Arg337Pro)]

NM_000546.6(TP53):c.1010G>C (p.Arg337Pro)

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.1010G>C (p.Arg337Pro)

HGVS:

NC_000017.11:g.7670699C>G
NG_017013.2:g.21852G>C
NM_000546.6:c.1010G>CMANE SELECT
NM_001126112.3:c.1010G>C
NM_001126113.3:c.*29G>C
NM_001126114.3:c.*117G>C
NM_001126115.2:c.614G>C
NM_001126116.2:c.*117G>C
NM_001126117.2:c.*29G>C
NM_001126118.2:c.893G>C
NM_001276695.3:c.*29G>C
NM_001276696.3:c.*117G>C
NM_001276697.3:c.533G>C
NM_001276698.3:c.*117G>C
NM_001276699.3:c.*29G>C
NM_001276760.3:c.893G>C
NM_001276761.3:c.893G>C
NP_000537.3:p.Arg337Pro
NP_000537.3:p.Arg337Pro
NP_001119584.1:p.Arg337Pro
NP_001119587.1:p.Arg205Pro
NP_001119590.1:p.Arg298Pro
NP_001263626.1:p.Arg178Pro
NP_001263689.1:p.Arg298Pro
NP_001263690.1:p.Arg298Pro
LRG_321t1:c.1010G>C
LRG_321:g.21852G>C
LRG_321p1:p.Arg337Pro
NC_000017.10:g.7574017C>G
NM_000546.4:c.1010G>C
NM_000546.5:c.1010G>C
P04637:p.Arg337Pro

Protein change:

R178P

Links:

UniProtKB: P04637#VAR_045538; dbSNP: rs121912664

NCBI 1000 Genomes Browser:

rs121912664

Molecular consequence:

NM_001126113.3:c.*29G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001126114.3:c.*117G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001126116.2:c.*117G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001126117.2:c.*29G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001276695.3:c.*29G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001276696.3:c.*117G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001276698.3:c.*117G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001276699.3:c.*29G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_000546.6:c.1010G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.1010G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001126115.2:c.614G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.2:c.893G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001276697.3:c.533G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.3:c.893G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.3:c.893G>C - 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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Drosophila melanogaster uncharacterized protein, transcript variant A (CG33301),...
Drosophila melanogaster uncharacterized protein, transcript variant A (CG33301), mRNA
gi|665407369|ref|NM_205955.6|

Nucleotide
tartrate-resistant acid phosphatase type 5 [Microcebus murinus]
tartrate-resistant acid phosphatase type 5 [Microcebus murinus]
gi|829895215|ref|XP_012646012.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002582994	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (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

SCV002582994

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(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, SCV002582994.1

#	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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