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NM_203447.4(DOCK8):c.2T>C (p.Met1Thr) AND Combined immunodeficiency due to DOCK8 deficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 25, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001364837.10

Allele description [Variation Report for NM_203447.4(DOCK8):c.2T>C (p.Met1Thr)]

NM_203447.4(DOCK8):c.2T>C (p.Met1Thr)

Genes:
DOCK8-AS1:DOCK8 antisense RNA 1 [Gene - HGNC]
DOCK8:dedicator of cytokinesis 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p24.3
Genomic location:
Preferred name:
NM_203447.4(DOCK8):c.2T>C (p.Met1Thr)
HGVS:
  • NC_000009.12:g.214978T>C
  • NG_017007.1:g.5114T>C
  • NM_203447.4:c.2T>CMANE SELECT
  • NP_982272.2:p.Met1Thr
  • LRG_196t1:c.2T>C
  • LRG_196:g.5114T>C
  • NC_000009.11:g.214978T>C
  • NM_203447.3:c.2T>C
  • NR_160804.1:n.773A>G
Protein change:
M1T
Links:
dbSNP: rs760902978
NCBI 1000 Genomes Browser:
rs760902978
Molecular consequence:
  • NM_203447.4:c.2T>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_203447.4:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_160804.1:n.773A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Combined immunodeficiency due to DOCK8 deficiency (HIES2)
Synonyms:
HIES autosomal recessive; Hyper-IgE recurrent infection syndrome, autosomal recessive; HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009478; MedGen: C4722305; Orphanet: 217390; OMIM: 243700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002779652Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 25, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

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

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 Fulgent Genetics, Fulgent Genetics, SCV002779652.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024