rs3012075
Positions:
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_022802.3(CTBP2):āc.1363T>Cā(p.Tyr455His) variant causes a missense change. The variant allele was found at a frequency of 0.481 in 1,609,638 control chromosomes in the GnomAD database, including 189,586 homozygotes. In-silico tool predicts a benign outcome for this variant. 10/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ).
Frequency
Genomes: š 0.45 ( 15791 hom., cov: 32)
Exomes š: 0.48 ( 173795 hom. )
Consequence
CTBP2
NM_022802.3 missense
NM_022802.3 missense
Scores
2
13
Clinical Significance
Conservation
PhyloP100: 3.95
Genes affected
CTBP2 (HGNC:2495): (C-terminal binding protein 2) This gene produces alternative transcripts encoding two distinct proteins. One protein is a transcriptional repressor, while the other isoform is a major component of specialized synapses known as synaptic ribbons. Both proteins contain a NAD+ binding domain similar to NAD+-dependent 2-hydroxyacid dehydrogenases. A portion of the 3' untranslated region was used to map this gene to chromosome 21q21.3; however, it was noted that similar loci elsewhere in the genome are likely. Blast analysis shows that this gene is present on chromosome 10. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -14 ACMG points.
BP4
?
Computational evidence support a benign effect (MetaRNN=2.5206962E-5).
BP6
?
Variant 10-125026397-A-G is Benign according to our data. Variant chr10-125026397-A-G is described in ClinVar as [Benign]. Clinvar id is 3059822.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
?
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.609 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CTBP2 | NM_022802.3 | c.1363T>C | p.Tyr455His | missense_variant | 1/9 | ENST00000309035.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CTBP2 | ENST00000309035.11 | c.1363T>C | p.Tyr455His | missense_variant | 1/9 | 1 | NM_022802.3 |
Frequencies
GnomAD3 genomes ? AF: 0.446 AC: 67639AN: 151694Hom.: 15788 Cov.: 32
GnomAD3 genomes
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GnomAD3 exomes AF: 0.472 AC: 115693AN: 244920Hom.: 28455 AF XY: 0.478 AC XY: 63470AN XY: 132832
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GnomAD4 exome AF: 0.485 AC: 706848AN: 1457826Hom.: 173795 Cov.: 68 AF XY: 0.485 AC XY: 351357AN XY: 724408
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GnomAD4 genome ? AF: 0.446 AC: 67677AN: 151812Hom.: 15791 Cov.: 32 AF XY: 0.449 AC XY: 33284AN XY: 74200
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1801
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1859
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1449
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4276
ExAC
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57527
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1932
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
CTBP2-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 17, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
CADD
Benign
DANN
Uncertain
Eigen
Benign
Eigen_PC
Benign
FATHMM_MKL
Benign
N
LIST_S2
Benign
T
MetaRNN
Benign
T
MetaSVM
Benign
T
MutationTaster
Benign
P;P;P;P;P
PrimateAI
Uncertain
T
PROVEAN
Benign
N
REVEL
Benign
Sift
Benign
D
Sift4G
Benign
T
Polyphen
B
Vest4
MPC
ClinPred
T
GERP RS
gMVP
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at