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NM_002187.3(IL12B):c.620C>T (p.Pro207Leu) AND Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 27, 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:
RCV000652140.2

Allele description [Variation Report for NM_002187.3(IL12B):c.620C>T (p.Pro207Leu)]

NM_002187.3(IL12B):c.620C>T (p.Pro207Leu)

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.620C>T (p.Pro207Leu)
HGVS:
  • NC_000005.10:g.159320383G>A
  • NG_009618.1:g.15091C>T
  • NM_002187.3:c.620C>TMANE SELECT
  • NP_002178.2:p.Pro207Leu
  • NP_002178.2:p.Pro207Leu
  • LRG_71t1:c.620C>T
  • LRG_71:g.15091C>T
  • LRG_71p1:p.Pro207Leu
  • NC_000005.9:g.158747391G>A
  • NM_002187.2:c.620C>T
Protein change:
P207L
Links:
dbSNP: rs1166346097
NCBI 1000 Genomes Browser:
rs1166346097
Molecular consequence:
  • NM_002187.3:c.620C>T - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000774008Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Sep 27, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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, SCV000774008.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change replaces proline with leucine at codon 207 of the IL12B protein (p.Pro207Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with IL12B-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024