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NM_005535.3(IL12RB1):c.942C>A (p.Tyr314Ter) AND Mycobacterium tuberculosis, susceptibility to

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV002283572.1

Allele description [Variation Report for NM_005535.3(IL12RB1):c.942C>A (p.Tyr314Ter)]

NM_005535.3(IL12RB1):c.942C>A (p.Tyr314Ter)

Gene:
IL12RB1:interleukin 12 receptor subunit beta 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.11
Genomic location:
Preferred name:
NM_005535.3(IL12RB1):c.942C>A (p.Tyr314Ter)
HGVS:
  • NC_000019.10:g.18072191G>T
  • NG_007366.2:g.31759C>A
  • NM_001290023.2:c.942C>A
  • NM_001290024.1:c.1062C>A
  • NM_005535.3:c.942C>AMANE SELECT
  • NM_153701.3:c.942C>A
  • NP_001276952.1:p.Tyr314Ter
  • NP_001276953.1:p.Tyr354Ter
  • NP_005526.1:p.Tyr314Ter
  • NP_005526.1:p.Tyr314Ter
  • NP_714912.1:p.Tyr314Ter
  • LRG_72t1:c.942C>A
  • LRG_72:g.31759C>A
  • LRG_72p1:p.Tyr314Ter
  • NC_000019.9:g.18183001G>T
  • NM_005535.1:c.942C>A
Protein change:
Y314*
Links:
dbSNP: rs762747908
NCBI 1000 Genomes Browser:
rs762747908
Molecular consequence:
  • NM_001290023.2:c.942C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001290024.1:c.1062C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_005535.3:c.942C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_153701.3:c.942C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Mycobacterium tuberculosis, susceptibility to
Identifiers:
MedGen: C1834752; OMIM: 607948

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002573415Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska"
no assertion criteria provided
Pathogenic
(May 1, 2022) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska", SCV002573415.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 5, 2025