U.S. flag

An official website of the United States government

NM_016292.3(TRAP1):c.1915C>T (p.Gln639Ter) AND Congenital anomalies of kidney and urinary tract 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 6, 2023
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:
RCV003235001.8

Allele description [Variation Report for NM_016292.3(TRAP1):c.1915C>T (p.Gln639Ter)]

NM_016292.3(TRAP1):c.1915C>T (p.Gln639Ter)

Genes:
TRAP1:TNF receptor associated protein 1 [Gene - OMIM - HGNC]
DNASE1:deoxyribonuclease 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_016292.3(TRAP1):c.1915C>T (p.Gln639Ter)
HGVS:
  • NC_000016.10:g.3662012G>A
  • NG_009285.2:g.55254G>A
  • NG_033088.1:g.60586C>T
  • NM_001272049.2:c.1756C>T
  • NM_001387140.1:c.*22-634G>A
  • NM_016292.3:c.1915C>TMANE SELECT
  • NP_001258978.1:p.Gln586Ter
  • NP_057376.2:p.Gln639Ter
  • NC_000016.9:g.3712013G>A
  • NM_016292.2:c.1915C>T
Protein change:
Q586*
Molecular consequence:
  • NM_001387140.1:c.*22-634G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001272049.2:c.1756C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_016292.3:c.1915C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Congenital anomalies of kidney and urinary tract 1
Synonyms:
Renal hypodysplasia, nonsyndromic, 1; Congenital anomalies of kidney and urinary tract 1, susceptibility to
Identifiers:
Gene: 100034704; MONDO: MONDO:0012561; MedGen: C1835826; OMIM: 610805

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003934998H. Huang Group, Central South University
no assertion criteria provided
Pathogenic
(Jun 6, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

The down-regulation of XBP1, an unfolded protein response effector, promotes acute kidney injury to chronic kidney disease transition.

Chen JH, Wu CH, Jheng JR, Chao CT, Huang JW, Hung KY, Liu SH, Chiang CK.

J Biomed Sci. 2022 Jun 28;29(1):46. doi: 10.1186/s12929-022-00828-9.

PubMed [citation]
PMID:
35765067
PMCID:
PMC9241279

TRAP1 ameliorates renal tubulointerstitial fibrosis in mice with unilateral ureteral obstruction by protecting renal tubular epithelial cell mitochondria.

Chen JF, Wu QS, Xie YX, Si BL, Yang PP, Wang WY, Hua Q, He Q.

FASEB J. 2017 Oct;31(10):4503-4514. doi: 10.1096/fj.201700283R. Epub 2017 Jul 14.

PubMed [citation]
PMID:
28710113
See all PubMed Citations (3)

Details of each submission

From H. Huang Group, Central South University, SCV003934998.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024