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NM_001395656.1(ROBO2):c.3148+2T>C AND Vesicoureteral reflux 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 18, 2016
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:
RCV000490492.2

Allele description

NM_001395656.1(ROBO2):c.3148+2T>C

Gene:
ROBO2:roundabout guidance receptor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p12.3
Genomic location:
Preferred name:
NM_001395656.1(ROBO2):c.3148+2T>C
HGVS:
  • NC_000003.12:g.77602493T>C
  • NG_027734.2:g.1700800T>C
  • NM_001128929.3:c.3184+2T>C
  • NM_001290039.2:c.3148+2T>C
  • NM_001290040.2:c.3148+2T>C
  • NM_001290065.2:c.1357+2T>C
  • NM_001378190.1:c.3196+2T>C
  • NM_001378191.1:c.3196+2T>C
  • NM_001378192.1:c.3217+2T>C
  • NM_001378193.1:c.3136+2T>C
  • NM_001378194.1:c.3208+11T>C
  • NM_001378195.1:c.3196+2T>C
  • NM_001378196.1:c.3196+2T>C
  • NM_001378197.1:c.3136+2T>C
  • NM_001378198.1:c.3217+2T>C
  • NM_001378199.1:c.3217+2T>C
  • NM_001378200.1:c.3196+2T>C
  • NM_001378201.1:c.3196+2T>C
  • NM_001378202.1:c.3139+11T>C
  • NM_001378203.1:c.3196+2T>C
  • NM_001394212.1:c.3205+2T>C
  • NM_001394213.1:c.3217+2T>C
  • NM_001394214.1:c.3205+2T>C
  • NM_001395656.1:c.3148+2T>CMANE SELECT
  • NM_001395657.1:c.3205+2T>C
  • NM_002942.5:c.3136+2T>C
  • NC_000003.11:g.77651644T>C
Links:
dbSNP: rs868180675
NCBI 1000 Genomes Browser:
rs868180675
Molecular consequence:
  • NM_001378194.1:c.3208+11T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378202.1:c.3139+11T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001128929.3:c.3184+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001290039.2:c.3148+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001290040.2:c.3148+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001290065.2:c.1357+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378190.1:c.3196+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378191.1:c.3196+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378192.1:c.3217+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378193.1:c.3136+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378195.1:c.3196+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378196.1:c.3196+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378197.1:c.3136+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378198.1:c.3217+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378199.1:c.3217+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378200.1:c.3196+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378201.1:c.3196+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378203.1:c.3196+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001394212.1:c.3205+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001394213.1:c.3217+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001394214.1:c.3205+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001395656.1:c.3148+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001395657.1:c.3205+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_002942.5:c.3136+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Vesicoureteral reflux 2 (VUR2)
Identifiers:
MONDO: MONDO:0012573; MedGen: C1970483; Orphanet: 289365; OMIM: 610878

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000267477Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Mar 18, 2016)
germlinereference population

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
East Asiangermlineunknown1not providednot providednot providednot providedreference population

Citations

PubMed

Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.

Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, Ferguson H, Kim HG, Fan Y, Xi Q, Li QG, Sanlaville D, Andrews W, Sundaresan V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TP, Feather SA, Woolf AS, Rao Y, Lupski JR, et al.

Am J Hum Genet. 2007 Apr;80(4):616-32. Epub 2007 Feb 14.

PubMed [citation]
PMID:
17357069
PMCID:
PMC1852714

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

Details of each submission

From Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center, SCV000267477.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1East Asian1not providednot providedreference population PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 10, 2023