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

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 13, 2021)
Last evaluated:
Jan 9, 2021
Accession:
VCV000224346.2
Variation ID:
224346
Description:
single nucleotide variant
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NM_001128929.3(ROBO2):c.383C>T (p.Ala128Val)

Allele ID
226081
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p12.3
Genomic location
3: 77098287 (GRCh38) GRCh38 UCSC
3: 77147438 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.77147438C>T
NC_000003.12:g.77098287C>T
NG_027734.1:g.1196594C>T
... more HGVS
Protein change
A112V, A128V
Other names
-
Canonical SPDI
NC_000003.12:77098286:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA2496688
dbSNP: rs780623744
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter - RCV000416566.1
Likely benign 1 criteria provided, single submitter Jan 9, 2021 RCV001290213.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ROBO2 - - GRCh38
GRCh37
262 280

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(-)
criteria provided, single submitter
Method: research
Vesicoureteral reflux 2
(Autosomal dominant inheritance)
Allele origin: unknown
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
Accession: SCV000265653.1
Submitted: (Jan 11, 2016)
Evidence details
Publications
PubMed (1)
Likely benign
(Jan 09, 2021)
criteria provided, single submitter
Method: curation
Congenital anomalies of kidney and urinary tract
Allele origin: germline
Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV001468575.1
Submitted: (Jan 13, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This ROBO2 variant was reported as Uncertain Significance in PMID: 27657687 with original nomenclature reported as c.C335T, p.A112V. Variant was re-classified as Likely Benign based … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
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 Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 27657687

Text-mined citations for rs780623744...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021