NM_004946.3(DOCK2):c.32G>A (p.Arg11Gln) AND DOCK2 deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 4, 2022
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:: RCV001952004.3

Allele description [Variation Report for NM_004946.3(DOCK2):c.32G>A (p.Arg11Gln)]

NM_004946.3(DOCK2):c.32G>A (p.Arg11Gln)

Genes:

LOC129995219:ATAC-STARR-seq lymphoblastoid silent region 16601 [Gene]
DOCK2:dedicator of cytokinesis 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q35.1

Genomic location:

Preferred name:

NM_004946.3(DOCK2):c.32G>A (p.Arg11Gln)

HGVS:

NC_000005.10:g.169637358G>A
NG_051800.1:g.5112G>A
NM_004946.3:c.32G>AMANE SELECT
NP_004937.1:p.Arg11Gln
LRG_1227t1:c.32G>A
LRG_1227:g.5112G>A
LRG_1227p1:p.Arg11Gln
NC_000005.9:g.169064362G>A
NR_156756.1:n.84G>A

Protein change:

R11Q

Links:

dbSNP: rs200033547

NCBI 1000 Genomes Browser:

rs200033547

Molecular consequence:

NM_004946.3:c.32G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_156756.1:n.84G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: DOCK2 deficiency
Synonyms:: Immunodeficiency 40
Identifiers:: MONDO: MONDO:0014637; MedGen: C4225328; Orphanet: 447737; OMIM: 616433

Recent activity

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MULTISPECIES: UDP-glucose 4-epimerase GalE [Corynebacterium]
MULTISPECIES: UDP-glucose 4-epimerase GalE [Corynebacterium]
gi|1092540086|ref|WP_070523004.1|

Protein
nssv1447973 (0)
Identical Protein Groups
MULTISPECIES: aminoglycoside O-phosphotransferase APH(3')-Ia [Bacteria]
MULTISPECIES: aminoglycoside O-phosphotransferase APH(3')-Ia [Bacteria]
gi|445940474|ref|WP_000018329.1|

Protein
efflux transporter outer membrane subunit [Klebsiella variicola]
efflux transporter outer membrane subunit [Klebsiella variicola]
gi|895909170|ref|WP_049008587.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002191733	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 4, 2022)	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

SCV002191733

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 4, 2022)

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, SCV002191733.2

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

Description

This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 11 of the DOCK2 protein (p.Arg11Gln). This variant is present in population databases (rs200033547, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with DOCK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1418213). 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 tolerated. 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.

#	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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