NM_000546.6(TP53):c.-29+4915del AND Acute myeloid leukemia

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003320412.2

Allele description [Variation Report for NM_000546.6(TP53):c.-29+4915del]

NM_000546.6(TP53):c.-29+4915del

Gene:
TP53:tumor protein p53 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000546.6(TP53):c.-29+4915del
HGVS:
  • NC_000017.11:g.7682462del
  • NG_017013.2:g.10089del
  • NG_028245.1:g.1392del
  • NM_000546.6:c.-29+4915delMANE SELECT
  • NM_001126112.3:c.-26+4915del
  • NM_001126113.3:c.-29+4915del
  • NM_001126114.3:c.-29+4915del
  • NM_001126118.2:c.-263+4915del
  • NM_001276695.3:c.-146+4915del
  • NM_001276696.3:c.-146+4915del
  • NM_001276760.3:c.-146+4915del
  • NM_001276761.3:c.-143+4915del
  • NM_001407262.1:c.-132+4915del
  • NM_001407263.1:c.-249+4915del
  • NM_001407268.1:c.-26+4915del
  • NM_001407269.1:c.-143+4915del
  • LRG_321:g.10089del
  • LRG_375:g.1392del
  • NC_000017.10:g.7585780del
  • NC_000017.11:g.7682462delG
Molecular consequence:
  • NM_000546.6:c.-29+4915del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001126112.3:c.-26+4915del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001126113.3:c.-29+4915del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001126114.3:c.-29+4915del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001126118.2:c.-263+4915del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001276695.3:c.-146+4915del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001276696.3:c.-146+4915del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001276760.3:c.-146+4915del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001276761.3:c.-143+4915del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407262.1:c.-132+4915del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407263.1:c.-249+4915del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407268.1:c.-26+4915del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407269.1:c.-143+4915del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Acute myeloid leukemia (AML)
Synonyms:
Acute myeloid leukemia, adult; AML adult; Acute myelogenous leukemia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018874; MeSH: D015470; MedGen: C0023467; Orphanet: 519; OMIM: 601626; Human Phenotype Ontology: HP:0004808

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004024469Ayesha Lab, University of the Punjab
no assertion criteria provided
Uncertain significancesomaticclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
South Asiansomaticyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ayesha Lab, University of the Punjab, SCV004024469.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1South Asiannot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 11, 2023