NM_001128929.3(ROBO2):c.383C>T (p.Ala128Val) AND Vesicoureteral reflux 2

Clinical significance:Uncertain significance

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000416566.1

Allele description [Variation Report for NM_001128929.3(ROBO2):c.383C>T (p.Ala128Val)]

NM_001128929.3(ROBO2):c.383C>T (p.Ala128Val)

Gene:
ROBO2:roundabout guidance receptor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p12.3
Genomic location:
Preferred name:
NM_001128929.3(ROBO2):c.383C>T (p.Ala128Val)
HGVS:
  • NC_000003.12:g.77098287C>T
  • NG_027734.1:g.1196594C>T
  • NG_027734.2:g.1196594C>T
  • NM_001128929.3:c.383C>T
  • NM_001290039.2:c.335C>T
  • NM_001290040.2:c.335C>T
  • NM_001290065.2:c.-1584C>T
  • NM_002942.5:c.335C>T
  • NP_001122401.1:p.Ala128Val
  • NP_001276968.1:p.Ala112Val
  • NP_001276969.1:p.Ala112Val
  • NP_002933.1:p.Ala112Val
  • NC_000003.11:g.77147438C>T
  • NM_002942.4:c.335C>T
  • c.C335T
  • p.A112V
Protein change:
A112V
Links:
dbSNP: rs780623744
NCBI 1000 Genomes Browser:
rs780623744
Molecular consequence:
  • NM_001290065.2:c.-1584C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001128929.3:c.383C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001290039.2:c.335C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001290040.2:c.335C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002942.5:c.335C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000265653Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicinecriteria provided, single submitter
Uncertain significanceunknownresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownno11not providednot providednoresearch

Citations

PubMed

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

Bekheirnia MR, Bekheirnia N, Bainbridge MN, Gu S, Coban Akdemir ZH, Gambin T, Janzen NK, Jhangiani SN, Muzny DM, Michael M, Brewer ED, Elenberg E, Kale AS, Riley AA, Swartz SJ, Scott DA, Yang Y, Srivaths PR, Wenderfer SE, Bodurtha J, Applegate CD, Velinov M, et al.

Genet Med. 2017 Apr;19(4):412-420. doi: 10.1038/gim.2016.131. Epub 2016 Sep 22.

PubMed [citation]
PMID:
27657687
PMCID:
PMC5362362

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000265653.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednoresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnonot providednot providednot provided1not provided1not provided

Last Updated: Nov 27, 2021

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