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NM_000546.6(TP53):c.72dup (p.Leu25fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
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:
RCV001829269.5

Allele description [Variation Report for NM_000546.6(TP53):c.72dup (p.Leu25fs)]

NM_000546.6(TP53):c.72dup (p.Leu25fs)

Gene:
TP53:tumor protein p53 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000546.6(TP53):c.72dup (p.Leu25fs)
HGVS:
  • NC_000017.11:g.7676525dup
  • NG_017013.2:g.16028dup
  • NM_000546.6:c.72dupMANE SELECT
  • NM_001126112.3:c.72dup
  • NM_001126113.3:c.72dup
  • NM_001126114.3:c.72dup
  • NM_001126118.2:c.-163dup
  • NM_001276695.3:c.-46dup
  • NM_001276696.3:c.-46dup
  • NM_001276760.3:c.-46dup
  • NM_001276761.3:c.-46dup
  • NP_000537.3:p.Leu25fs
  • NP_001119584.1:p.Leu25fs
  • NP_001119585.1:p.Leu25fs
  • NP_001119586.1:p.Leu25fs
  • LRG_321t1:c.72dup
  • LRG_321:g.16028dup
  • NC_000017.10:g.7579843dup
  • NM_000546.5:c.72dupA
Protein change:
L25fs
Links:
dbSNP: rs2151047224
NCBI 1000 Genomes Browser:
rs2151047224
Molecular consequence:
  • NM_001126118.2:c.-163dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276695.3:c.-46dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276696.3:c.-46dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276760.3:c.-46dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276761.3:c.-46dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000546.6:c.72dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001126112.3:c.72dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001126113.3:c.72dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001126114.3:c.72dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Adrenocortical carcinoma, hereditary (ADCC)
Identifiers:
MONDO: MONDO:0008734; MedGen: C1859972; Orphanet: 1501; OMIM: 202300
Name:
Glioma susceptibility 1 (GLM1)
Synonyms:
Glioblastoma, somatic
Identifiers:
MONDO: MONDO:0024498; MedGen: C2750850; OMIM: 137800
Name:
Li-Fraumeni syndrome 1 (LFS)
Identifiers:
Gene: 553989; MedGen: C1835398; Orphanet: 524; OMIM: 151623
Name:
Choroid plexus papilloma (CPP)
Synonyms:
Papilloma of choroid plexus
Identifiers:
MONDO: MONDO:0009837; MedGen: C0205770; Orphanet: 251899; OMIM: 260500; Human Phenotype Ontology: HP:0200022
Name:
Basal cell carcinoma, susceptibility to, 7 (BCC7)
Identifiers:
MONDO: MONDO:0013876; MedGen: C3553606; OMIM: 614740
Name:
Colorectal cancer
Synonyms:
Colorectal cancer, somatic; Malignant Colorectal Neoplasm
Identifiers:
MONDO: MONDO:0005575; MedGen: C0346629; OMIM: 114500
Name:
Bone marrow failure syndrome 5
Identifiers:
MONDO: MONDO:0032573; MedGen: C4748488; OMIM: 618165

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002096996Suma Genomics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicinheritedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot 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 Suma Genomics, SCV002096996.1

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

Last Updated: Nov 10, 2024