NM_002187.3(IL12B):c.612G>C (p.Glu204Asp) AND Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 21, 2017
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:: RCV000652138.7

Allele description [Variation Report for NM_002187.3(IL12B):c.612G>C (p.Glu204Asp)]

NM_002187.3(IL12B):c.612G>C (p.Glu204Asp)

Gene:

IL12B:interleukin 12B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q33.3

Genomic location:

Preferred name:

NM_002187.3(IL12B):c.612G>C (p.Glu204Asp)

HGVS:

NC_000005.10:g.159320391C>G
NG_009618.1:g.15083G>C
NM_002187.3:c.612G>CMANE SELECT
NP_002178.2:p.Glu204Asp
NP_002178.2:p.Glu204Asp
LRG_71t1:c.612G>C
LRG_71:g.15083G>C
LRG_71p1:p.Glu204Asp
NC_000005.9:g.158747399C>G
NM_002187.2:c.612G>C

Protein change:

E204D

Links:

dbSNP: rs1554156466

NCBI 1000 Genomes Browser:

rs1554156466

Molecular consequence:

NM_002187.3:c.612G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Synonyms:: IL12B DEFICIENCY; Immunodeficiency 29
Identifiers:: MONDO: MONDO:0013954; MedGen: C4013948; Orphanet: 319558; OMIM: 614890

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000774006	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 21, 2017)	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

SCV000774006

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 21, 2017)

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, SCV000774006.4

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

Description

This variant is not present in population databases (ExAC no frequency). 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. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with IL12B-related disease. This sequence change replaces glutamic acid with aspartic acid at codon 204 of the IL12B protein (p.Glu204Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid.

#	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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