NM_000588.4(IL3):c.159G>T (p.Leu53Phe) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 11, 2022
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:: RCV004212174.1

Allele description [Variation Report for NM_000588.4(IL3):c.159G>T (p.Leu53Phe)]

NM_000588.4(IL3):c.159G>T (p.Leu53Phe)

Gene:

IL3:interleukin 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.1

Genomic location:

Preferred name:

NM_000588.4(IL3):c.159G>T (p.Leu53Phe)

HGVS:

NC_000005.10:g.132060865G>T
NM_000588.4:c.159G>TMANE SELECT
NP_000579.2:p.Leu53Phe
NC_000005.9:g.131396558G>T
NM_000588.3:c.159G>T

Protein change:

L53F

Molecular consequence:

NM_000588.4:c.159G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Pathogen: clinical or host-associated sample from Streptococcus pyogenes
Pathogen: clinical or host-associated sample from Streptococcus pyogenes

biosample
Sus scrofa mRNA for 60S ribosomal protein L35, complete cds
Sus scrofa mRNA for 60S ribosomal protein L35, complete cds
gi|12957203|dbj|AB055884.1|

Nucleotide
Candidatus Electrothrix sp.
Candidatus Electrothrix sp.
Cable strain project

BioProject
protein O-mannosyl-transferase TMTC2 isoform 3 precursor [Homo sapiens]
protein O-mannosyl-transferase TMTC2 isoform 3 precursor [Homo sapiens]
gi|998614208|ref|NP_001307251.1|

Protein
Dasyurus albopunctatus recombination-activating gene 1 gene, partial cds
Dasyurus albopunctatus recombination-activating gene 1 gene, partial cds
gi|32892242|gb|AY243398.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003709161	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 11, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003709161

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 11, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003709161.2

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

Description

The c.159G>T (p.L53F) alteration is located in exon 1 (coding exon 1) of the IL3 gene. This alteration results from a G to T substitution at nucleotide position 159, causing the leucine (L) at amino acid position 53 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 3, 2024

ClinVar

Relating variation to medicine