NM_015375.2(DSTYK):c.86G>A (p.Arg29Gln) AND Congenital anomalies of kidney and urinary tract 1, susceptibility to

Clinical significance:risk factor (Last evaluated: Aug 15, 2013)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000054500.3

Allele description [Variation Report for NM_015375.2(DSTYK):c.86G>A (p.Arg29Gln)]

NM_015375.2(DSTYK):c.86G>A (p.Arg29Gln)

Gene:
DSTYK:dual serine/threonine and tyrosine protein kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.1
Genomic location:
Preferred name:
NM_015375.2(DSTYK):c.86G>A (p.Arg29Gln)
HGVS:
  • NC_000001.11:g.205211450C>T
  • NG_033904.1:g.5150G>A
  • NM_015375.2:c.86G>A
  • NP_056190.1:p.Arg29Gln
  • NC_000001.10:g.205180578C>T
  • Q6XUX3:p.Arg29Gln
Protein change:
R29Q; ARG29GLN
Links:
UniProtKB: Q6XUX3#VAR_071324; OMIM: 612666.0004; dbSNP: 200780796
GMAF:
0.0008(T), 200780796
NCBI 1000 Genomes Browser:
rs200780796
Allele Frequency:
NaN
Molecular consequence:
  • NM_015375.2:c.86G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital anomalies of kidney and urinary tract 1, susceptibility to (CAKUT1)
Synonyms:
Renal hypodysplasia, nonsyndromic, 1
Identifiers:
Gene: 100034704; MedGen: C1835826; OMIM: 610805

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000082978OMIMno assertion criteria providedrisk factor
(Aug 15, 2013)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Mutations in DSTYK and dominant urinary tract malformations.

Sanna-Cherchi S, Sampogna RV, Papeta N, Burgess KE, Nees SN, Perry BJ, Choi M, Bodria M, Liu Y, Weng PL, Lozanovski VJ, Verbitsky M, Lugani F, Sterken R, Paragas N, Caridi G, Carrea A, Dagnino M, Materna-Kiryluk A, Santamaria G, Murtas C, Ristoska-Bojkovska N, et al.

N Engl J Med. 2013 Aug 15;369(7):621-9. doi: 10.1056/NEJMoa1214479. Epub 2013 Jul 17.

PubMed [citation]
PMID:
23862974
PMCID:
PMC3846391

Details of each submission

From OMIM, SCV000082978.2

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

Description

In 3 unrelated patients with CAKUT1 (610805), Sanna-Cherchi et al. (2013) identified a heterozygous c.86G-A transition in the DSTYK gene, resulting in an arg29-to-gln (R29Q) substitution at a highly conserved residue. The mutation was not found in several public databases or in 385 European controls. The first patient was an Albanian boy who had ureteropelvic junction obstruction. The second patient was an Italian boy who had renal hypodysplasia in utero and developed chronic renal failure. The third patient was an Albanian girl who presented with renal hypodysplasia at birth and also had congenital adrenal hyperplasia. None of these patients, who were identified from a cohort of 311 unrelated patients, had familial disease.

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

Last Updated: May 5, 2017