NM_000546.5(TP53):c.919+1G>A AND Li-Fraumeni syndrome 1

Clinical significance:Pathogenic (Last evaluated: May 21, 2019)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000782136.1

Allele description [Variation Report for NM_000546.5(TP53):c.919+1G>A]

NM_000546.5(TP53):c.919+1G>A

Gene:
TP53:tumor protein p53 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000546.5(TP53):c.919+1G>A
Other names:
NM_001276761.1:c.802+1G>A
HGVS:
  • NC_000017.11:g.7673700C>T
  • NG_017013.2:g.18851G>A
  • NM_000546.5:c.919+1G>A
  • NM_001126112.2:c.919+1G>A
  • NM_001126113.2:c.919+1G>A
  • NM_001126114.2:c.919+1G>A
  • NM_001126115.1:c.523+1G>A
  • NM_001126116.1:c.523+1G>A
  • NM_001126117.1:c.523+1G>A
  • NM_001126118.1:c.802+1G>A
  • NM_001276695.2:c.802+1G>A
  • NM_001276696.2:c.802+1G>A
  • NM_001276697.2:c.442+1G>A
  • NM_001276698.2:c.442+1G>A
  • NM_001276699.2:c.442+1G>A
  • NM_001276760.2:c.802+1G>A
  • NM_001276761.2:c.802+1G>A
  • LRG_321t1:c.919+1G>A
  • LRG_321t2:c.919+1G>A
  • LRG_321t3:c.919+1G>A
  • LRG_321t4:c.919+1G>A
  • LRG_321t5:c.523+1G>A
  • LRG_321t6:c.523+1G>A
  • LRG_321t7:c.523+1G>A
  • LRG_321t8:c.802+1G>A
  • LRG_321:g.18851G>A
  • NC_000017.10:g.7577018C>T
Links:
dbSNP: rs1131691039
NCBI 1000 Genomes Browser:
rs1131691039
Molecular consequence:
  • NM_000546.5:c.919+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001126112.2:c.919+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001126113.2:c.919+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001126114.2:c.919+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001126115.1:c.523+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001126116.1:c.523+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001126117.1:c.523+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001126118.1:c.802+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001276695.2:c.802+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001276696.2:c.802+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001276697.2:c.442+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001276698.2:c.442+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001276699.2:c.442+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001276760.2:c.802+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001276761.2:c.802+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

Name:
Li-Fraumeni syndrome 1 (LFS)
Synonyms:
Li-Fraumeni syndrome 3
Identifiers:
Gene: 553989; MONDO: MONDO:0007903; MedGen: C1835398; Orphanet: 524; OMIM: 151623

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000914200Academic Center for Education, Culture and Research, Motamed Cancer Instituteno assertion criteria providedPathogenic
(May 21, 2019)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Academic Center for Education, Culture and Research, Motamed Cancer Institute, SCV000914200.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 23, 2021

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