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rs28935468

Variant summary

Our verdict is Pathogenic. Variant got 13 ACMG points: 13P and 0B. PM1PM2_SupportingPM5PP5_Very_Strong

The NM_001110792.2(MECP2):c.952C>T(p.Arg318Cys) variant causes a missense change. The variant was absent in control chromosomes in GnomAD Genomes project. Variant has been reported in ClinVar as Pathogenic (★★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R318H) has been classified as Likely pathogenic.

Frequency

Genomes: not found (cov: 23)

Consequence

MECP2
NM_001110792.2 missense

Scores

6
1
4

Clinical Significance

Pathogenic reviewed by expert panel P:44O:1

Conservation

PhyloP100: 7.09

Links

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ACMG classification

Classification made for transcript

Verdict is Pathogenic. Variant got 13 ACMG points.

PM1
?
In a hotspot region, there are 9 aminoacids with missense pathogenic changes in the window of +-8 aminoacids around while only 1 benign, 9 uncertain in NM_001110792.2
PM2
?
Very rare variant; Number of alleles below threshold, Median coverage is 23.
PM5
?
Other missense variant is known to change same aminoacid residue: Variant chrX-154030911-C-T is described in ClinVar as [Likely_pathogenic]. Clinvar id is 143746.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
PP5
?
Variant X-154030912-G-A is Pathogenic according to our data. Variant chrX-154030912-G-A is described in ClinVar as [Pathogenic]. Clinvar id is 11824.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chrX-154030912-G-A is described in Lovd as [Pathogenic]. Variant chrX-154030912-G-A is described in Lovd as [Pathogenic].

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE UniProt
MECP2NM_001110792.2 linkuse as main transcriptc.952C>T p.Arg318Cys missense_variant 3/3 ENST00000453960.7
MECP2NM_004992.4 linkuse as main transcriptc.916C>T p.Arg306Cys missense_variant 4/4 ENST00000303391.11

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
MECP2ENST00000453960.7 linkuse as main transcriptc.952C>T p.Arg318Cys missense_variant 3/31 NM_001110792.2 P51608-2
MECP2ENST00000303391.11 linkuse as main transcriptc.916C>T p.Arg306Cys missense_variant 4/41 NM_004992.4 P1P51608-1

Frequencies

GnomAD3 genomes
Cov.:
23
Bravo
AF:
0.00000378

ClinVar

Significance: Pathogenic
Submissions summary: Pathogenic:44Other:1
Revision: reviewed by expert panel
LINK: link

Submissions by phenotype

Rett syndrome Pathogenic:22Other:1
Pathogenic, no assertion criteria providedliterature onlyOMIMApr 15, 2004- -
Pathogenic, no assertion criteria providedcurationRettBASEFeb 26, 2014- -
Pathogenic, criteria provided, single submitterclinical testingInstitute for Genomic Statistics and Bioinformatics, University Hospital Bonn-- -
Pathogenic, reviewed by expert panelcurationClinGen Rett and Angelman-like Disorders Variant Curation Expert PanelMar 26, 2021The p.Arg306Cys variant in MECP2 has been reported as a de novo occurrence (biological parentage both confirmed and unconfirmed) in at least 3 individuals with Rett Syndrome (PMID 10577905, 11309679, 19189931; internal database, GeneDx) (PS2_very strong). This variant has been observed in at least 4 other individuals with Rett syndrome (PMID 24511209, 23238081, RettBase) (PS4). The p.Arg306Cys variant occurs in the well-characterized transcriptional repression domain (TRD) functional domain of MECP2 (PMID 21326358, 23770565) (PM1). This variant is absent in gnomAD (PM2_supporting). Computational prediction analysis tools suggests a deleterious impact; however, this information does not predict clinical significance on its own (PP3). In summary, p.Arg306Cys variant in MECP2 is classified as Pathogenic for Rett syndrome based on the ACMG/AMP criteria (PS2_very strong, PS4, PM1, PM2_supporting, PP3). -
Pathogenic, criteria provided, single submitterclinical testingNeuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine-The missense variant p.R306C in MECP2 (NM_004992.4) has been previously reported in at least 4 individuals affected with Rett syndrome (Cortelazzo et al, 2014). Experimental studies have shown that this missense change abolishes the interaction between MECP2 and its co-repressor and impairs DNA-binding both in vitro and in vivo (Lyst et al, 2013; Heckman et al. 2014). The p.R306C variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. There is a large physicochemical difference between arginine and cysteine, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. The p.R306C missense variant is predicted to be damaging by both SIFT and PolyPhen2. The arginine residue at codon 306 of MECP2 is conserved in all mammalian species. The nucleotide c.916 in MECP2 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Pathogenic -
Pathogenic, criteria provided, single submitterclinical testingDepartment of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized MedicineJun 29, 2016- -
Pathogenic, criteria provided, single submitterclinical testingWomen's Health and Genetics/Laboratory Corporation of America, LabCorpMay 11, 2017Variant summary: The MECP2 c.916C>T (p.Arg306Cys) variant causes a missense change involving the alteration of a conserved nucleotide. 4/4 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). Functional studies showed that this variant decreased microtubule (MT) stability and down-regulated GRID1, a gene in the neurotransmitter pathway which is known to be down-regulated in the absence of functional MECP2 (Delepine_FEBSL_2013, Livide_EJHG_2014). In addition, a study using the Mecp2R306C mouse knock-out model recapitulated RTT-like features, such as compromised mobility and motor coordination and reduction in brain weight (Lyst_Natneurosci_2013). This variant is absent in 87936 control chromosomes including broad and large populations from ExAC. This variant was reported in numerous patients with RTT syndrome (Buyse_AJHG_2000, Obata_JMG_2000, Xiang_JMG_2000), including instances of de novo occurrence and it is considered the second most common RTT-causing missense mutation. In addition, multiple clinical diagnostic laboratories/reputable databases have classified this variant as pathogenic. Taken together, this variant is classified as pathogenic. -
Pathogenic, criteria provided, single submitterclinical testingCenter for Human Genetics, Inc, Center for Human Genetics, IncNov 01, 2016- -
not provided, no classification providedliterature onlyGeneReviews-- -
Pathogenic, no assertion criteria providedclinical testingClinical Molecular Genetics Laboratory, Johns Hopkins All Children's HospitalJun 26, 2014- -
Pathogenic, criteria provided, single submitterclinical testingLaboratory of Medical Genetics, National & Kapodistrian University of AthensJul 09, 2018PS4, PM1, PM2, PM5, PP3, PP4, PP5 -
Pathogenic, criteria provided, single submitterclinical testingBaylor GeneticsAug 09, 2019This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. -
Pathogenic, criteria provided, single submitterclinical testing3billionFeb 23, 2023The variant is not observed in the gnomAD v2.1.1 dataset. Predicted Consequence/Location: The variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported (PMID: 34837432). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.84; 3Cnet: 0.82). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000011824). The variant has been previously reported as de novo in at least two similarly affected unrelated individuals (PMID: 10577905, 11309679, 19189931). The variant has been observed in multiple (>3) similarly affected unrelated individuals (PMID: 2323808, 24511209). Different missense changes at the same codon (p.Arg318His, p.Arg318Leu, p.Arg318Pro) have been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000143746, VCV000143747, VCV000521860). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. -
Pathogenic, criteria provided, single submitterclinical testingGenetic Services Laboratory, University of ChicagoFeb 08, 2013- -
Pathogenic, criteria provided, single submitterclinical testingRady Children's Institute for Genomic Medicine, Rady Children's Hospital San DiegoJul 26, 2019This variant is also referred to in the literature as c.916C>T (p.Arg306Cys) due to use of a different reference transcript (NM_004992.3). This variant is a recurrent alteration that has been reported in multiple individuals with Rett syndrome (PMID: 10577905, 26175308, 29655203, 30792901, 11738864, 19309283, 28394482). RettBASE, a MECP2 variation database, reports the p.Arg318Cys change accounts for approximately 5% of Rett syndrome diagnoses (http://mecp2.chw.edu.au/) (PMID: 28544139). This variant has also been reported as Pathogenic by multiple clinical diagnostic laboratories in the ClinVar database (Variation ID: 11824). Functional studies have shown this missense variant disrupts the ability of the MeCP2 protein to associate with co-repressors (PMID: 23770587, 23770565, 24970834), impairs DNA-binding in vivo and in vitro (PMID: 26647311, 11058114), and results in decreased microtubule stability (PMID: 23238081). The c.952C>T (p.Arg318Cys) variant is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. It affects a highly conserved amino acid and is predicted by multiple in silico tools to have a deleterious effect on protein function. Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, the c.952C>T (p.Arg318Cys) variant is classified as Pathogenic. -
Pathogenic, criteria provided, single submitterclinical testingBlueprint GeneticsJun 27, 2018- -
Pathogenic, criteria provided, single submitterclinical testingCentogene AG - the Rare Disease Company-- -
Pathogenic, criteria provided, single submitterclinical testingInstitute of Human Genetics, University of Leipzig Medical CenterJan 01, 2019- -
Pathogenic, criteria provided, single submitterclinical testingMolecular Diagnostics Lab, Nemours Children's Health, DelawareDec 18, 2019- -
Pathogenic, criteria provided, single submitterclinical testingSuma Genomics-- -
Pathogenic, criteria provided, single submittercurationCentre for Population Genomics, CPGAug 14, 2023This variant has been collected from RettBASE and curated to current modified ACMG/AMP criteria.Based on the classification scheme defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders Specifications to the ACMG/AMP Variant Interpretation Guidelines VCEP 2.0, this variant is classified as pathogenic. At least the following criteria are met: This variant has been identified as a de novo occurrence with confirmed parental relationships in at least 2 individuals with Rett syndrome , or in at least 1 individual with confirmed parental relationships AND assumed the novo in at least 2 individuals with unconfirmed parental relationships (PS2_Very_Strong). Has been observed in at least 5 individuals with phenotypes consistent with MECP2-related disease (PS4). Occurs in the well-characterized Transcriptional repression domain (TRD) of MECP2 (PM1). Computational prediction analysis tools suggests a deleterious impact (REVEL score ≥ 0.75) (PP3). This variant is absent from gnomAD (PM2_Supporting). -
Pathogenic, criteria provided, single submitterclinical testingMolecular Genetics Laboratory, Children's Mercy Hospital and Clinics-- -
Pathogenic, no assertion criteria providedclinical testingZotz-Klimas Genetics Lab, MVZ Zotz KlimasNov 02, 2023- -
not provided Pathogenic:14
Pathogenic, no assertion criteria providedclinical testingDiagnostic Laboratory, Department of Genetics, University Medical Center Groningen-- -
Pathogenic, no assertion criteria providedclinical testingGenome Diagnostics Laboratory, Amsterdam University Medical Center-- -
Pathogenic, criteria provided, single submitterclinical testingLaboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de NantesMay 15, 2018- -
Pathogenic, criteria provided, single submitterclinical testingCenter for Pediatric Genomic Medicine, Children's Mercy Hospital and ClinicsAug 24, 2017- -
Pathogenic, no assertion criteria providedclinical testingGenomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of PhiladelphiaApr 03, 2015- -
Pathogenic, criteria provided, single submitterclinical testingARUP Laboratories, Molecular Genetics and Genomics, ARUP LaboratoriesDec 24, 2020The MECP2 c.916C>T; p.Arg306Cys variant (rs28935468) is a recurrent alteration in individuals diagnosed with Rett syndrome, and often found as a de novo change (Cheadle 2000, Wan 1999, RettBase). Transgenic mice expressing the variant protein show developmental and behavioral phenotypes reminiscent of the clinical symptoms found in human patients (Brown 2016, Heckman 2014). Functional characterization of the MECP2 variant protein indicates disruption in its association with co-repressors, such as HDAC3 and the NCoR complex (Ebert 2013, Heckman 2014, Lyst 2013), and reduction in in-vivo DNA occupancy (Heckman 2014). This results in a failure of the MECP2 protein in mediating transcriptional repression at its targets (Ebert 2013, Lyst 2013). Another missense variant at this residue, p.Arg306His, has also been implicated in Rett syndrome (Cheadle 2000, RettBase). The p.Arg306Cys variant is listed as pathogenic in ClinVar (Variation ID: 11824), and is not observed in the general population databases (1000 Genomes Project, Exome Variant Server, Genome Aggregation Database). Based on the above information, the p.Arg306Cys variant is classified as pathogenic. References: RettBase: http://mecp2.chw.edu.au/cgi-bin/mecp2/views/basic.cgi?form=basic Brown K et al. The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome. Hum Mol Genet. 2016; 25(3):558-70. Cheadle J et al. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Hum Mol Genet. 2000; 9(7):1119-29. Ebert D et al. Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR. Nature. 2013; 499(7458):341-5. Heckman L et al. Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice. Elife. 2014 Jun 26; 3. Lyst M et al. Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor. Nat Neurosci. 2013; 16(7):898-902. Wan M et al. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet. 1999; 65(6):1520-9. -
Pathogenic, criteria provided, single submitterclinical testingAthena Diagnostics IncMay 12, 2023This variant has been identified in multiple unrelated individuals with Rett syndrome and occurs de novo in multiple individuals. This variant has not been reported in large, multi-ethnic general populations. (Genome Aggregation Database (gnomAD), Cambridge, MA (URL: http://gnomad.broadinstitute.org)) In some published literature, this variant is referred to as c.990C>T and c.991C>T. Assessment of experimental evidence suggests this variant results in abnormal protein function. (PMID: 23770565, 24970834, 23770587, 26647311) The variant is located in a region that is considered important for protein function and/or structure. -
Pathogenic, criteria provided, single submitterclinical testingRevvity Omics, Revvity OmicsJul 18, 2023- -
Pathogenic, no assertion criteria providedclinical testingJoint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+-- -
Pathogenic, criteria provided, single submitterclinical testingQuest Diagnostics Nichols Institute San Juan CapistranoMay 12, 2023In the published literature, this variant has been reported in multiple individuals affected with Rett syndrome (PMIDs: 10767337 (2000), 10814719 (2000), 23238081 (2013), and 24511209 (2014)), and has been reported in multiple symptomatic individuals as a de novo occurrence (PMIDs: 10577905 (1999), 11309679 (2001), 19189931 (2009), and 32393352 (2020)). In addition, functional studies report this variant is damaging to MECP2 protein function (PMIDs: 23770565 (2013), 23770587 (2013), 24970834 (2014), and 26647311 (2016)). Based on the available information, this variant is classified as pathogenic. -
Pathogenic, criteria provided, single submitterclinical testingGeneDxApr 16, 2020Published functional studies demonstrate that the R306C variant results in a damaging effect (Heckman et al., 2014; Kruusvee et al., 2017); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 23770565, 11058114, 27428650, 26647311, 28212680, 32393352, 24511209, 10577905, 23770587, 23238081, 24970834, 24916645, 28348241, 19309283, 16077729, 26175308, 17276711, 11738864, 28394482, 29655203, 30792901, 31139143, 31095231, 25762136, 30577886, 12030010, 31130284, 33278787) -
Pathogenic, no assertion criteria providedclinical testingGenome Diagnostics Laboratory, University Medical Center Utrecht-- -
Pathogenic, criteria provided, single submitterclinical testingCeGaT Center for Human Genetics TuebingenJul 01, 2023MECP2: PS2, PS4, PM2, PP3 -
Pathogenic, criteria provided, single submitterclinical testingEurofins Ntd Llc (ga)Feb 04, 2015- -
Severe neonatal-onset encephalopathy with microcephaly Pathogenic:1
Pathogenic, criteria provided, single submitterclinical testingInvitaeOct 16, 2022This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 306 of the MECP2 protein (p.Arg306Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Rett syndrome (RTT) and accounts for approximately 5% of all classical RTT cases (PMID: 10991688, 11214906, 14649554, 16473305, 24511209). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 11824). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects MECP2 function (PMID: 23770565, 23770587, 24970834, 26647311). This variant disrupts the p.Arg306 amino acid residue in MECP2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10767337, 14649554, 16473305). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. -
Neurodevelopmental delay Pathogenic:1
Pathogenic, criteria provided, single submitterclinical testingCentre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille-- -
Inborn genetic diseases Pathogenic:1
Pathogenic, criteria provided, single submitterclinical testingAmbry GeneticsDec 06, 2018The p.R306C pathogenic mutation (also known as c.916C>T), located in coding exon 3 of the MECP2 gene, results from a C to T substitution at nucleotide position 916. The arginine at codon 306 is replaced by cysteine, an amino acid with highly dissimilar properties. This mutation has been observed in multiple individuals with Rett syndrome, both inherited and de novo occurrences (Wan M et al. Am. J. Hum. Genet., 1999 Dec;65:1520-9; Buyse IM et al. Am. J. Hum. Genet., 2000 Dec;67:1428-36; Yamashita Y et al. Brain Dev., 2001 Dec;23 Suppl 1:S157-60; Heilstedt HA et al. Am. J. Med. Genet., 2002 Aug;111:238-42; Schanen C et al. Am. J. Med. Genet. A, 2004 Apr;126A:129-40; Zhang Q et al. Am. J. Med. Genet. B Neuropsychiatr. Genet., 2017 Jun;174:451-457). Functional studies demonstrated that this alteration had decreased microtubule stability, abolished the interaction of MeCP2 with the NCoR/SMRT co-repressor, and down regulated GRID1 expression (Delépine C et al. FEBS Lett., 2013 Jan;587:245-53; Lyst MJ et al. Nat. Neurosci., 2013 Jul;16:898-902; Livide G et al. Eur. J. Hum. Genet., 2015 Feb;23:195-201). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. -
See cases Pathogenic:1
Pathogenic, criteria provided, single submitterclinical testingInstitute of Human Genetics, University Hospital MuensterJan 23, 2019ACMG categories: PS2,PM2,PM5,PP3,PP4,PP5 -
Angelman syndrome Pathogenic:1
Pathogenic, no assertion criteria providedclinical testingClinical Molecular Genetics Laboratory, Johns Hopkins All Children's HospitalFeb 20, 2006- -
Rett syndrome;C0796222:X-linked intellectual disability-psychosis-macroorchidism syndrome;C1845336:Autism, susceptibility to, X-linked 3;C1846058:Syndromic X-linked intellectual disability Lubs type;C1968556:Severe neonatal-onset encephalopathy with microcephaly Pathogenic:1
Pathogenic, criteria provided, single submitterclinical testingCenter for Genomics, Ann and Robert H. Lurie Children's Hospital of ChicagoMar 30, 2021MECP2 NM_004992.3 exon4 p.Arg306Cys (c.916C>T): This variant is one of the most common pathogenic variants in MECP2 and has been reported in the literature in several individuals with Rett syndrome incliuding at least two de novo occurrences (Wan 1999 PMID: 10577905; Yamashita 2001 PMID: 11738864, Jian 2005 PMID: 16077729; Voutoufianakis 2007 PMID: 17276711; Fendri-Kriaa 2009; PMID: 19309283; Delepine 2013 PMID: 23238081; Cortelazzo 2014 PMID: 24511209; Livide 2015 PMID: 24970834; Pidcock 2016 PMID: 26175308; Zhang 2017 PMID: 28394482; Lindy 2018 29655203; Long 2019 31139143; Scocchia 2019 30792901). This variant is not present in large control databases but is present in ClinVar, with several labs classifying this variant as pathogenic (Variation ID: 11824). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. Additionally, both in vitro and in vivo functional studies have shown a deleterious effect for this variant (Delepine 2013 PMID: 23238081; Ebert 2013 PMID: 23770587; Lyst 2013 PMID: 23770656; Heckman 2014 PMID: 24970834; Livide 2015 PMID: 24970834; Brown 2016 PMID: 26647311). However, these studies may not accurately represent in vivo human biological function. In summary, this variant is classified as pathogenic based on the data above. -
Autism, susceptibility to, X-linked 3 Pathogenic:1
Pathogenic, criteria provided, single submitterresearchFoundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human GeneticsNov 01, 2021A heterozygous missense variation in exon 3 of the MECP2 gene that results in the amino acid substitution of Cysteine for Arginine at codon 318 was detected. The observed variant c.952C>T (p.Arg318Cys) has not been reported in the 1000 genomes and gnomAD databases. The in-silico predictions of the variant are damaging by PolyPhen-2 (HumDiv), SIFT, LRT and MutationTaster2. The reference codon is conserved across species. This variant has previously been reported in patients affected with Rett syndrome. Segregation analysis showed the variant to be of de novo origin. In summary, the variant meets our criteria to be classified as a pathogenic variant. -
Intellectual disability Pathogenic:1
Pathogenic, criteria provided, single submitterclinical testingDiagnostic Laboratory, Strasbourg University HospitalJul 25, 2014- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
AlphaMissense
Pathogenic
1.0
BayesDel_addAF
Pathogenic
0.48
D
BayesDel_noAF
Pathogenic
0.64
Cadd
Pathogenic
29
Dann
Pathogenic
1.0
DEOGEN2
Benign
0.064
T
FATHMM_MKL
Pathogenic
0.98
D
LIST_S2
Benign
0.32
T
M_CAP
Pathogenic
0.87
D
MetaRNN
Uncertain
0.55
D
MutationTaster
Benign
1.0
A;A
Sift4G
Benign
0.17
T
Vest4
0.44
MVP
0.98
ClinPred
0.99
D
GERP RS
5.1
RBP_binding_hub_radar
0.0
RBP_regulation_power_radar
1.7

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs28935468; hg19: chrX-153296363; COSMIC: COSV100318414; COSMIC: COSV100318414; API