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NM_000593.6(TAP1):c.1976G>A (p.Arg659Gln) AND TAP1 deficiency, somatic

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 1, 1996
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:
RCV000014734.5

Allele description [Variation Report for NM_000593.6(TAP1):c.1976G>A (p.Arg659Gln)]

NM_000593.6(TAP1):c.1976G>A (p.Arg659Gln)

Gene:
TAP1:transporter 1, ATP binding cassette subfamily B member [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.32
Genomic location:
Preferred name:
NM_000593.6(TAP1):c.1976G>A (p.Arg659Gln)
Other names:
R659Q
HGVS:
  • NC_000006.12:g.32847132C>T
  • NG_011759.1:g.11840G>A
  • NG_028165.1:g.2804G>A
  • NM_000593.6:c.1976G>AMANE SELECT
  • NM_001292022.2:c.1373G>A
  • NP_000584.2:p.Arg719Gln
  • NP_000584.3:p.Arg659Gln
  • NP_001278951.1:p.Arg458Gln
  • LRG_166t1:c.1976G>A
  • LRG_1328:g.2804G>A
  • LRG_166:g.11840G>A
  • LRG_166p1:p.Arg659Gln
  • NC_000006.11:g.32814909C>T
  • NM_000593.5:c.2156G>A
  • Q03518:p.Arg719Gln
Protein change:
R458Q; ARG659GLN
Links:
UniProtKB: Q03518#VAR_013173; OMIM: 170260.0003; dbSNP: rs121917702
NCBI 1000 Genomes Browser:
rs121917702
Molecular consequence:
  • NM_000593.6:c.1976G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292022.2:c.1373G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
TAP1 deficiency, somatic
Identifiers:
MedGen: C4016311

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000034989OMIM
no assertion criteria provided
Pathogenic
(Jun 1, 1996) 		somaticliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

A functionally defective allele of TAP1 results in loss of MHC class I antigen presentation in a human lung cancer.

Chen HL, Gabrilovich D, Tampé R, Girgis KR, Nadaf S, Carbone DP.

Nat Genet. 1996 Jun;13(2):210-3.

PubMed [citation]
PMID:
8640228

Details of each submission

From OMIM, SCV000034989.2

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

Description

In a human small cell lung cancer cell line, Chen et al. (1996) identified heterozygosity for an R659Q allele at the TAP1 locus. Only the R659Q allele was transcribed into RNA. Even though the protein was expressed, the cells acted as if they were TAP-deficient and were restored to normal by transfection of a functional TAP1 allele. Thus the cells had a defect in the conveying of intracellular peptides into the endoplasmic reticulum for complex formation with class I MHC and subsequent recognition by cytotoxic T lymphocytes.

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

Last Updated: Sep 29, 2024