NM_002184.4(IL6ST):c.2062T>G (p.Phe688Val) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 30, 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:: RCV002647169.3

Allele description [Variation Report for NM_002184.4(IL6ST):c.2062T>G (p.Phe688Val)]

NM_002184.4(IL6ST):c.2062T>G (p.Phe688Val)

Gene:

IL6ST:interleukin 6 cytokine family signal transducer [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q11.2

Genomic location:

Preferred name:

NM_002184.4(IL6ST):c.2062T>G (p.Phe688Val)

HGVS:

NC_000005.10:g.55941777A>C
NM_001190981.2:c.1879T>G
NM_001364275.2:c.1960T>G
NM_001364276.2:c.1852T>G
NM_001364277.2:c.1195T>G
NM_001364278.2:c.1159T>G
NM_001364279.2:c.1066T>G
NM_002184.4:c.2062T>GMANE SELECT
NM_175767.3:c.*989T>G
NP_001177910.1:p.Phe627Val
NP_001351204.1:p.Phe654Val
NP_001351205.1:p.Phe618Val
NP_001351206.1:p.Phe399Val
NP_001351207.1:p.Phe387Val
NP_001351208.1:p.Phe356Val
NP_002175.2:p.Phe688Val
NC_000005.9:g.55237605A>C
NR_120480.2:n.2391T>G
NR_157112.2:n.3226T>G

Protein change:

F356V

Molecular consequence:

NM_175767.3:c.*989T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001190981.2:c.1879T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001364275.2:c.1960T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001364276.2:c.1852T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001364277.2:c.1195T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001364278.2:c.1159T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001364279.2:c.1066T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002184.4:c.2062T>G - missense variant - [Sequence Ontology: SO:0001583]
NR_120480.2:n.2391T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_157112.2:n.3226T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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abdominal-A, partial [Cataglyphis italica]
abdominal-A, partial [Cataglyphis italica]
gi|1632313849|gb|QCI61965.1|

Protein
abdominal-A, partial [Cataglyphis aenescens]
abdominal-A, partial [Cataglyphis aenescens]
gi|1632313815|gb|QCI61948.1|

Protein
uncharacterized protein YHR219W [Saccharomyces cerevisiae S288C]
uncharacterized protein YHR219W [Saccharomyces cerevisiae S288C]
gi|398365243|ref|NP_012091.3|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002987893	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 30, 2022)	germline	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

SCV002987893

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 30, 2022)

germline

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002987893.2

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

Description

This sequence change replaces phenylalanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 688 of the IL6ST protein (p.Phe688Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with IL6ST-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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: Sep 29, 2024

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