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NM_001557.4(CXCR2):c.623G>A (p.Arg208Gln) AND WHIM syndrome 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 28, 2021
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:
RCV001824265.2

Allele description

NM_001557.4(CXCR2):c.623G>A (p.Arg208Gln)

Gene:
CXCR2:C-X-C motif chemokine receptor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001557.4(CXCR2):c.623G>A (p.Arg208Gln)
HGVS:
  • NC_000002.12:g.218135424G>A
  • NG_052975.1:g.15135G>A
  • NM_001168298.2:c.623G>A
  • NM_001557.4:c.623G>AMANE SELECT
  • NP_001161770.1:p.Arg208Gln
  • NP_001548.1:p.Arg208Gln
  • NC_000002.11:g.219000147G>A
Protein change:
R208Q
Links:
dbSNP: rs1273183086
NCBI 1000 Genomes Browser:
rs1273183086
Molecular consequence:
  • NM_001168298.2:c.623G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001557.4:c.623G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
WHIM syndrome 2
Synonyms:
WARTS, HYPOGAMMAGLOBULINEMIA, INFECTIONS, AND MYELOKATHEXIS SYNDROME 2
Identifiers:
MONDO: MONDO:0030374; MedGen: C5543622; OMIM: 619407

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002073916Genomics Facility, Ludwig-Maximilians-Universität München
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Dec 28, 2021) 		biparentalclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedbiparentalyesnot 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

Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits.

Auer PL, Teumer A, Schick U, O'Shaughnessy A, Lo KS, Chami N, Carlson C, de Denus S, Dubé MP, Haessler J, Jackson RD, Kooperberg C, Perreault LP, Nauck M, Peters U, Rioux JD, Schmidt F, Turcot V, Völker U, Völzke H, Greinacher A, Hsu L, et al.

Nat Genet. 2014 Jun;46(6):629-34. doi: 10.1038/ng.2962. Epub 2014 Apr 28.

PubMed [citation]
PMID:
24777453
PMCID:
PMC4050975

Details of each submission

From Genomics Facility, Ludwig-Maximilians-Universität München, SCV002073916.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1biparentalyesnot providedPBMCsnot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024