NM_001123385.2(BCOR):c.4751del (p.Asn1584fs) AND Acute myeloid leukemia

Germline classification:: Pathogenic (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:: RCV002227834.1

Allele description [Variation Report for NM_001123385.2(BCOR):c.4751del (p.Asn1584fs)]

NM_001123385.2(BCOR):c.4751del (p.Asn1584fs)

Gene:

BCOR:BCL6 corepressor [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xp11.4

Genomic location:

Preferred name:

NM_001123385.2(BCOR):c.4751del (p.Asn1584fs)

HGVS:

NC_000023.11:g.40054326del
NG_008880.1:g.128006del
NM_001123383.1:c.4649del
NM_001123384.2:c.4595del
NM_001123385.2:c.4751delMANE SELECT
NM_017745.6:c.4649del
NP_001116855.1:p.Asn1550fs
NP_001116856.1:p.Asn1532fs
NP_001116857.1:p.Asn1584fs
NP_060215.4:p.Asn1550fs
LRG_627t1:c.4649del
LRG_627t2:c.4751del
LRG_627:g.128006del
LRG_627p1:p.Asn1550fs
NC_000023.10:g.39913579del
NM_001123385.1:c.4751delA

Protein change:

N1532fs

Links:

dbSNP: rs2146872060

NCBI 1000 Genomes Browser:

rs2146872060

Molecular consequence:

NM_001123383.1:c.4649del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001123384.2:c.4595del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001123385.2:c.4751del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_017745.6:c.4649del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV002506985	Molecular Diagnostics Laboratory, University of Rochester Medical Center	no assertion criteria provided	Pathogenic	germline	curation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002506985

Molecular Diagnostics Laboratory, University of Rochester Medical Center

no assertion criteria provided

Pathogenic

germline

curation

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	curation

Details of each submission

From Molecular Diagnostics Laboratory, University of Rochester Medical Center, SCV002506985.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

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

Last Updated: Dec 24, 2023

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