U.S. flag

An official website of the United States government

NM_001395656.1(ROBO2):c.292G>T (p.Gly98Trp) AND Congenital anomaly of kidney and urinary tract

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jan 9, 2021
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:
RCV001290221.4

Allele description [Variation Report for NM_001395656.1(ROBO2):c.292G>T (p.Gly98Trp)]

NM_001395656.1(ROBO2):c.292G>T (p.Gly98Trp)

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.292G>T (p.Gly98Trp)
HGVS:
  • NC_000003.12:g.77098244G>T
  • NG_027734.2:g.1196551G>T
  • NM_001128929.3:c.340G>T
  • NM_001290039.2:c.292G>T
  • NM_001290040.2:c.292G>T
  • NM_001290065.2:c.-1627G>T
  • NM_001378190.1:c.340G>T
  • NM_001378191.1:c.340G>T
  • NM_001378192.1:c.361G>T
  • NM_001378193.1:c.292G>T
  • NM_001378194.1:c.361G>T
  • NM_001378195.1:c.340G>T
  • NM_001378196.1:c.340G>T
  • NM_001378197.1:c.292G>T
  • NM_001378198.1:c.361G>T
  • NM_001378199.1:c.361G>T
  • NM_001378200.1:c.340G>T
  • NM_001378201.1:c.340G>T
  • NM_001378202.1:c.292G>T
  • NM_001378203.1:c.340G>T
  • NM_001394212.1:c.361G>T
  • NM_001394213.1:c.361G>T
  • NM_001394214.1:c.361G>T
  • NM_001395656.1:c.292G>TMANE SELECT
  • NM_001395657.1:c.361G>T
  • NM_002942.5:c.292G>T
  • NP_001122401.1:p.Gly114Trp
  • NP_001276968.1:p.Gly98Trp
  • NP_001276969.1:p.Gly98Trp
  • NP_001365119.1:p.Gly114Trp
  • NP_001365120.1:p.Gly114Trp
  • NP_001365121.1:p.Gly121Trp
  • NP_001365122.1:p.Gly98Trp
  • NP_001365123.1:p.Gly121Trp
  • NP_001365124.1:p.Gly114Trp
  • NP_001365125.1:p.Gly114Trp
  • NP_001365126.1:p.Gly98Trp
  • NP_001365127.1:p.Gly121Trp
  • NP_001365128.1:p.Gly121Trp
  • NP_001365129.1:p.Gly114Trp
  • NP_001365130.1:p.Gly114Trp
  • NP_001365131.1:p.Gly98Trp
  • NP_001365132.1:p.Gly114Trp
  • NP_001381141.1:p.Gly121Trp
  • NP_001381142.1:p.Gly121Trp
  • NP_001381143.1:p.Gly121Trp
  • NP_001382585.1:p.Gly98Trp
  • NP_001382586.1:p.Gly121Trp
  • NP_002933.1:p.Gly98Trp
  • NC_000003.11:g.77147395G>T
  • NM_001290040.2:c.292G>T
Protein change:
G114W
Links:
dbSNP: rs2071367863
NCBI 1000 Genomes Browser:
rs2071367863
Molecular consequence:
  • NM_001290065.2:c.-1627G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001128929.3:c.340G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001290039.2:c.292G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001290040.2:c.292G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378190.1:c.340G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378191.1:c.340G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378192.1:c.361G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378193.1:c.292G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378194.1:c.361G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378195.1:c.340G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378196.1:c.340G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378197.1:c.292G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378198.1:c.361G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378199.1:c.361G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378200.1:c.340G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378201.1:c.340G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378202.1:c.292G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378203.1:c.340G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394212.1:c.361G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394213.1:c.361G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394214.1:c.361G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001395656.1:c.292G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001395657.1:c.361G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002942.5:c.292G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital anomaly of kidney and urinary tract
Synonyms:
Congenital anomalies of kidney and urinary tract; Congenital anomalies of the kidney and urinary tract
Identifiers:
MONDO: MONDO:0019719; MeSH: C566906; MedGen: C1968949; OMIM: PS610805

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
SCV001468574Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 9, 2021) 		germlinecuration

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

SCV002106506Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics
no assertion criteria provided
Likely pathogenic
(Aug 24, 2018) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedliterature only, curation

Citations

PubMed

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.

Hwang DY, Dworschak GC, Kohl S, Saisawat P, Vivante A, Hilger AC, Reutter HM, Soliman NA, Bogdanovic R, Kehinde EO, Tasic V, Hildebrandt F.

Kidney Int. 2014 Jun;85(6):1429-33. doi: 10.1038/ki.2013.508. Epub 2014 Jan 15.

PubMed [citation]
PMID:
24429398
PMCID:
PMC4040148

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
See all PubMed Citations (3)

Details of each submission

From Institute of Human Genetics, University of Leipzig Medical Center, SCV001468574.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedcuration PubMed (3)

Description

This ROBO2 variant was reported as Likely pathogenic​ in PMID: 30143558; https://open.bu.edu/bitstream/handle/2144/30911/Thao_bu_0017N_13732.pdf; PMID: 24429398 with original nomenclature reported as c.292G>T p.Gly98Trp; p.G114W (c.340G>T); c.340G>T, p.G114W. Variant was re-classified as Likely Pathogenic based on the criteria PS3_Moderate, PM1_Moderate, PM2_Supporting, PP3_Supporting.

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

From Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics, SCV002106506.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024