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NM_000546.6(TP53):c.5A>G (p.Glu2Gly) 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:
RCV002290626.2

Allele description [Variation Report for NM_000546.6(TP53):c.5A>G (p.Glu2Gly)]

NM_000546.6(TP53):c.5A>G (p.Glu2Gly)

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.5A>G (p.Glu2Gly)
HGVS:
  • NC_000017.11:g.7676590T>C
  • NG_017013.2:g.15961A>G
  • NM_000546.6:c.5A>GMANE SELECT
  • NM_001126112.3:c.5A>G
  • NM_001126113.3:c.5A>G
  • NM_001126114.3:c.5A>G
  • NM_001126118.2:c.-230A>G
  • NM_001276695.3:c.-113A>G
  • NM_001276696.3:c.-113A>G
  • NM_001276760.3:c.-113A>G
  • NM_001276761.3:c.-113A>G
  • NP_000537.3:p.Glu2Gly
  • NP_001119584.1:p.Glu2Gly
  • NP_001119585.1:p.Glu2Gly
  • NP_001119586.1:p.Glu2Gly
  • LRG_321t1:c.5A>G
  • LRG_321:g.15961A>G
  • NC_000017.10:g.7579908T>C
  • NC_000017.10:g.7579908T>C
  • NM_000546.5:c.5A>G
Protein change:
E2G
Links:
dbSNP: rs2073524631
NCBI 1000 Genomes Browser:
rs2073524631
Molecular consequence:
  • NM_001126118.2:c.-230A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276695.3:c.-113A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276696.3:c.-113A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276760.3:c.-113A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276761.3:c.-113A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000546.6:c.5A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.5A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.5A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.5A>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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002582754Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jun 18, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical 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, SCV002582754.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024