NM_000641.4(IL11):c.538G>A (p.Gly180Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 17, 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:: RCV004313119.1

Allele description [Variation Report for NM_000641.4(IL11):c.538G>A (p.Gly180Arg)]

NM_000641.4(IL11):c.538G>A (p.Gly180Arg)

Gene:

IL11:interleukin 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.42

Genomic location:

Preferred name:

NM_000641.4(IL11):c.538G>A (p.Gly180Arg)

HGVS:

NC_000019.10:g.55366069C>T
NM_000641.4:c.538G>AMANE SELECT
NM_001267718.2:c.301G>A
NP_000632.1:p.Gly180Arg
NP_001254647.1:p.Gly101Arg
NC_000019.9:g.55877437C>T
NM_000641.2:c.538G>A

Protein change:

G101R

Molecular consequence:

NM_000641.4:c.538G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001267718.2:c.301G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Clitopilus hobsonii strain CBS 269.36 18S ribosomal RNA gene, partial sequence; ...
Clitopilus hobsonii strain CBS 269.36 18S ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequence
gi|238801152|gb|FJ770395.1|

Nucleotide
Ochotona alpina tripartite motif containing 5 (TRIM5) mRNA, partial cds
Ochotona alpina tripartite motif containing 5 (TRIM5) mRNA, partial cds
gi|1785996152|gb|MN605830.1|

Nucleotide
Arabidopsis thaliana P-loop containing nucleoside triphosphate hydrolases superf...
Arabidopsis thaliana P-loop containing nucleoside triphosphate hydrolases superfamily protein (AT2G42520), mRNA
gi|1063706605|ref|NM_001336985.1|

Nucleotide
Rhodocybe truncata strain CBS 295.50 internal transcribed spacer 1, partial sequ...
Rhodocybe truncata strain CBS 295.50 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequence
gi|238801150|gb|FJ770393.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003974731	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 17, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003974731

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 17, 2023)

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, SCV003974731.2

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

Description

The c.538G>A (p.G180R) alteration is located in exon 5 (coding exon 5) of the IL11 gene. This alteration results from a G to A substitution at nucleotide position 538, causing the glycine (G) at amino acid position 180 to be replaced by an arginine (R). 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

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