NM_006060.6(IKZF1):c.530T>C (p.Leu177Pro) AND Acute lymphoid leukemia

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 23, 2023
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:: RCV003444111.1

Allele description [Variation Report for NM_006060.6(IKZF1):c.530T>C (p.Leu177Pro)]

NM_006060.6(IKZF1):c.530T>C (p.Leu177Pro)

Gene:

IKZF1:IKAROS family zinc finger 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p12.2

Genomic location:

Preferred name:

NM_006060.6(IKZF1):c.530T>C (p.Leu177Pro)

HGVS:

NC_000007.14:g.50382648T>C
NG_034231.1:g.83566T>C
NM_001220765.3:c.530T>C
NM_001220767.2:c.269T>C
NM_001220768.2:c.530T>C
NM_001220770.2:c.269T>C
NM_001220771.2:c.421+5855T>C
NM_001291837.2:c.530T>C
NM_001291838.2:c.269T>C
NM_001291839.2:c.269T>C
NM_001291840.1:c.161-17270T>C
NM_001291841.1:c.161-4697T>C
NM_001291842.1:c.161-4697T>C
NM_001291843.1:c.161-9081T>C
NM_001291844.1:c.161-9081T>C
NM_006060.6:c.530T>CMANE SELECT
NP_001207694.1:p.Leu177Pro
NP_001207696.1:p.Leu90Pro
NP_001207697.1:p.Leu177Pro
NP_001207699.1:p.Leu90Pro
NP_001278766.1:p.Leu177Pro
NP_001278767.1:p.Leu90Pro
NP_001278768.1:p.Leu90Pro
NP_006051.1:p.Leu177Pro
LRG_1121t1:c.530T>C
LRG_1121:g.83566T>C
LRG_1121p1:p.Leu177Pro
NC_000007.13:g.50450346T>C
NM_006060.5:c.530T>C

Protein change:

L177P

Links:

dbSNP: rs2153477847

NCBI 1000 Genomes Browser:

rs2153477847

Molecular consequence:

NM_001220771.2:c.421+5855T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001291840.1:c.161-17270T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001291841.1:c.161-4697T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001291842.1:c.161-4697T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001291843.1:c.161-9081T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001291844.1:c.161-9081T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001220765.3:c.530T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001220767.2:c.269T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001220768.2:c.530T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001220770.2:c.269T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001291837.2:c.530T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001291838.2:c.269T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001291839.2:c.269T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_006060.6:c.530T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Acute lymphoid leukemia (ALL)
Synonyms:: Acute lymphoblastic leukemia; Leukemia, acute lymphoblastic, somatic; Lymphoblastic leukemia; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0004967; MedGen: C0023449; Orphanet: 513; OMIM: 613065; Human Phenotype Ontology: HP:0006721

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004036046	Genomic Diagnostics Laboratory, National Institute of Medical Genomics	criteria provided, single submitter (AMP Guidelines, 2017)	Likely pathogenic (Sep 23, 2023)	somatic	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004036046

Genomic Diagnostics Laboratory, National Institute of Medical Genomics

criteria provided, single submitter

(AMP Guidelines, 2017)

Likely pathogenic
(Sep 23, 2023)

somatic

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists.

Li MM, Datto M, Duncavage EJ, Kulkarni S, Lindeman NI, Roy S, Tsimberidou AM, Vnencak-Jones CL, Wolff DJ, Younes A, Nikiforova MN.

J Mol Diagn. 2017 Jan;19(1):4-23. doi: 10.1016/j.jmoldx.2016.10.002. Review.

PubMed [citation]

PMID:: 27993330
PMCID:: PMC5707196

Details of each submission

From Genomic Diagnostics Laboratory, National Institute of Medical Genomics, SCV004036046.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	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: Dec 24, 2023

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