chr3-77040961-C-T
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Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001395656.1(ROBO2):c.61+115C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0799 in 1,392,942 control chromosomes in the GnomAD database, including 5,171 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Genomes: 𝑓 0.058 ( 330 hom., cov: 32)
Exomes 𝑓: 0.083 ( 4841 hom. )
Consequence
ROBO2
NM_001395656.1 intron
NM_001395656.1 intron
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.0350
Genes affected
ROBO2 (HGNC:10250): (roundabout guidance receptor 2) The protein encoded by this gene belongs to the ROBO family, part of the immunoglobulin superfamily of proteins that are highly conserved from fly to human. The encoded protein is a transmembrane receptor for the slit homolog 2 protein and functions in axon guidance and cell migration. Mutations in this gene are associated with vesicoureteral reflux, characterized by the backward flow of urine from the bladder into the ureters or the kidney. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -20 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.82).
BP6
Variant 3-77040961-C-T is Benign according to our data. Variant chr3-77040961-C-T is described in ClinVar as [Benign]. Clinvar id is 1247361.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0896 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ROBO2 | NM_001395656.1 | c.61+115C>T | intron_variant | ENST00000696593.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ROBO2 | ENST00000696593.1 | c.61+115C>T | intron_variant | NM_001395656.1 | A2 |
Frequencies
GnomAD3 genomes AF: 0.0577 AC: 8602AN: 149006Hom.: 331 Cov.: 32
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GnomAD4 exome AF: 0.0826 AC: 102765AN: 1243832Hom.: 4841 AF XY: 0.0819 AC XY: 51380AN XY: 627470
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GnomAD4 genome AF: 0.0577 AC: 8599AN: 149110Hom.: 330 Cov.: 32 AF XY: 0.0548 AC XY: 3975AN XY: 72586
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jun 20, 2021 | - - |
Computational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at