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NM_001394783.1(CCR5):c.894del (p.Phe299fs) AND CCR5 POLYMORPHISM, ORIENTAL 1

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 1, 1997
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:
RCV000008667.2

Allele description [Variation Report for NM_001394783.1(CCR5):c.894del (p.Phe299fs)]

NM_001394783.1(CCR5):c.894del (p.Phe299fs)

Genes:
CCR5:C-C motif chemokine receptor 5 [Gene - OMIM - HGNC]
CCR5AS:CCR5 antisense RNA [Gene - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_001394783.1(CCR5):c.894del (p.Phe299fs)
HGVS:
  • NC_000003.12:g.46373796del
  • NG_012637.1:g.8655del
  • NM_000579.4:c.894del
  • NM_001100168.2:c.894del
  • NM_001394783.1:c.894delMANE SELECT
  • NP_000570.1:p.Phe299fs
  • NP_000570.1:p.Phe299fs
  • NP_001093638.1:p.Phe299fs
  • NP_001381712.1:p.Phe299fs
  • NC_000003.11:g.46415287del
  • NM_000579.3:c.894del
Note:
NCBI staff reviewed Table 1 of the paper by Ansari-Lari et al., 1997 (PubMed 9207783) to determine the location of this variant.
Protein change:
F299fs
Links:
OMIM: 601373.0002; dbSNP: rs796065305
NCBI 1000 Genomes Browser:
rs796065305
Molecular consequence:
  • NM_000579.4:c.894del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001100168.2:c.894del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001394783.1:c.894del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
CCR5 POLYMORPHISM, ORIENTAL 1
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000028876OMIM
no assertion criteria provided
Benign
(Jul 1, 1997) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

The extent of genetic variation in the CCR5 gene.

Ansari-Lari MA, Liu XM, Metzker ML, Rut AR, Gibbs RA.

Nat Genet. 1997 Jul;16(3):221-2. No abstract available.

PubMed [citation]
PMID:
9207783

Details of each submission

From OMIM, SCV000028876.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In Japanese and Chinese populations, Ansari-Lari et al. (1997) identified 2 variant alleles of the CMKBR5 gene, each with an approximate frequency of 0.04. One of these alleles was a 1-bp deletion, causing premature termination of translation, with the predicted 54-amino acid deletion located at the C-terminal intracellular domain of the protein. Several putative phosphorylation sites in this domain have potential importance for signal transduction. The other allele in Chinese and Japanese populations caused an arg-to-gln conversion in the putative third intracellular loop of the protein (601373.0003). One person homozygous for this allele was identified in the Hispanic population. This may reflect admixture of the Hispanic population.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 14, 2023