NM_000546.6(TP53):c.993+86del 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:: RCV003320350.1

Allele description [Variation Report for NM_000546.6(TP53):c.993+86del]

NM_000546.6(TP53):c.993+86del

Gene:

TP53:tumor protein p53 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.993+86del

HGVS:

NC_000017.11:g.7673449del
NG_017013.2:g.19102del
NM_000546.6:c.993+86delMANE SELECT
NM_001126112.3:c.993+86del
NM_001126113.3:c.993+86del
NM_001126114.3:c.993+86del
NM_001126115.2:c.597+86del
NM_001126116.2:c.597+86del
NM_001126117.2:c.597+86del
NM_001126118.2:c.876+86del
NM_001276695.3:c.876+86del
NM_001276696.3:c.876+86del
NM_001276697.3:c.516+86del
NM_001276698.3:c.516+86del
NM_001276699.3:c.516+86del
NM_001276760.3:c.876+86del
NM_001276761.3:c.876+86del
NM_001407262.1:c.993+86del
NM_001407263.1:c.876+86del
NM_001407264.1:c.993+86del
NM_001407265.1:c.876+86del
NM_001407266.1:c.993+86del
NM_001407267.1:c.876+86del
NM_001407268.1:c.993+86del
NM_001407269.1:c.876+86del
NM_001407270.1:c.993+86del
NM_001407271.1:c.876+86del
LRG_321:g.19102del
NC_000017.10:g.7576767del
NC_000017.11:g.7673449delG

Molecular consequence:

NM_000546.6:c.993+86del - intron variant - [Sequence Ontology: SO:0001627]
NM_001126112.3:c.993+86del - intron variant - [Sequence Ontology: SO:0001627]
NM_001126113.3:c.993+86del - intron variant - [Sequence Ontology: SO:0001627]
NM_001126114.3:c.993+86del - intron variant - [Sequence Ontology: SO:0001627]
NM_001126115.2:c.597+86del - intron variant - [Sequence Ontology: SO:0001627]
NM_001126116.2:c.597+86del - intron variant - [Sequence Ontology: SO:0001627]
NM_001126117.2:c.597+86del - intron variant - [Sequence Ontology: SO:0001627]
NM_001126118.2:c.876+86del - intron variant - [Sequence Ontology: SO:0001627]
NM_001276695.3:c.876+86del - intron variant - [Sequence Ontology: SO:0001627]
NM_001276696.3:c.876+86del - intron variant - [Sequence Ontology: SO:0001627]
NM_001276697.3:c.516+86del - intron variant - [Sequence Ontology: SO:0001627]
NM_001276698.3:c.516+86del - intron variant - [Sequence Ontology: SO:0001627]
NM_001276699.3:c.516+86del - intron variant - [Sequence Ontology: SO:0001627]
NM_001276760.3:c.876+86del - intron variant - [Sequence Ontology: SO:0001627]
NM_001276761.3:c.876+86del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407262.1:c.993+86del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407263.1:c.876+86del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407264.1:c.993+86del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407265.1:c.876+86del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407266.1:c.993+86del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407267.1:c.876+86del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407268.1:c.993+86del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407269.1:c.876+86del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407270.1:c.993+86del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407271.1:c.876+86del - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004024448	Ayesha Lab, University of the Punjab	no assertion criteria provided	Uncertain significance	somatic	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004024448

Ayesha Lab, University of the Punjab

no assertion criteria provided

Uncertain significance

somatic

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
South Asian	somatic	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ayesha Lab, University of the Punjab, SCV004024448.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	South Asian	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 19, 2023

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