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NM_006282.5(STK4):c.1387C>T (p.Arg463Trp) AND Combined immunodeficiency due to STK4 deficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 20, 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:
RCV003223532.2

Allele description [Variation Report for NM_006282.5(STK4):c.1387C>T (p.Arg463Trp)]

NM_006282.5(STK4):c.1387C>T (p.Arg463Trp)

Gene:
STK4:serine/threonine kinase 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.12
Genomic location:
Preferred name:
NM_006282.5(STK4):c.1387C>T (p.Arg463Trp)
HGVS:
  • NC_000020.11:g.45075099C>T
  • NG_032172.1:g.113621C>T
  • NM_001352385.2:c.*93C>T
  • NM_006282.5:c.1387C>TMANE SELECT
  • NP_006273.1:p.Arg463Trp
  • NP_006273.1:p.Arg463Trp
  • LRG_535t1:c.1387C>T
  • LRG_535:g.113621C>T
  • LRG_535p1:p.Arg463Trp
  • NC_000020.10:g.43703740C>T
  • NM_006282.2:c.1387C>T
Protein change:
R463W
Molecular consequence:
  • NM_001352385.2:c.*93C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_006282.5:c.1387C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Combined immunodeficiency due to STK4 deficiency (IMD110)
Synonyms:
STK4 DEFICIENCY; MST1 DEFICIENCY; T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
Identifiers:
MONDO: MONDO:0013934; MedGen: C3553943; Orphanet: 314689; OMIM: 614868

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003919054Duke University Health System Sequencing Clinic, Duke University Health System
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 20, 2023) 		paternalresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Duke University Health System Sequencing Clinic, Duke University Health System, SCV003919054.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023