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rs80338903

Variant summary

Our verdict is Likely pathogenic. Variant got 9 ACMG points: 9P and 0B. PVS1PP5

The NM_206933.4(USH2A):c.2299del(p.Glu767SerfsTer21) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000947 in 1,613,920 control chromosomes in the GnomAD database, including 2 homozygotes. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Variant results in nonsense mediated mRNA decay.

Frequency

Genomes: 𝑓 0.00050 ( 0 hom., cov: 32)
Exomes 𝑓: 0.00099 ( 2 hom. )

Consequence

USH2A
NM_206933.4 frameshift

Scores

Not classified

Clinical Significance

Conflicting classifications of pathogenicity criteria provided, conflicting classifications P:49U:1O:2

Conservation

PhyloP100: 1.75
Variant links:
Genes affected
USH2A (HGNC:12601): (usherin) This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

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ACMG classification

Classification made for transcript

Verdict is Likely_pathogenic. Variant got 9 ACMG points.

PVS1
Loss of function variant, product undergoes nonsense mediated mRNA decay. LoF is a known mechanism of disease.
PP5
Variant 1-216247094-TC-T is Pathogenic according to our data. Variant chr1-216247094-TC-T is described in ClinVar as [Conflicting_classifications_of_pathogenicity]. Clinvar id is 2351.We mark this variant Likely_pathogenic, oryginal submissions are: {Pathogenic=33, not_provided=2, Uncertain_significance=1}. Variant chr1-216247094-TC-T is described in Lovd as [Likely_pathogenic]. Variant chr1-216247094-TC-T is described in Lovd as [Pathogenic]. Variant chr1-216247094-TC-T is described in Lovd as [Benign]. Variant chr1-216247094-TC-T is described in Lovd as [Pathogenic]. Variant chr1-216247094-TC-T is described in Lovd as [Likely_pathogenic].

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE UniProt
USH2ANM_206933.4 linkuse as main transcriptc.2299del p.Glu767SerfsTer21 frameshift_variant 13/72 ENST00000307340.8
USH2ANM_007123.6 linkuse as main transcriptc.2299del p.Glu767SerfsTer21 frameshift_variant 13/21

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
USH2AENST00000307340.8 linkuse as main transcriptc.2299del p.Glu767SerfsTer21 frameshift_variant 13/721 NM_206933.4 P1O75445-1
USH2AENST00000366942.3 linkuse as main transcriptc.2299del p.Glu767SerfsTer21 frameshift_variant 13/211 O75445-2
USH2AENST00000674083.1 linkuse as main transcriptc.2299del p.Glu767SerfsTer21 frameshift_variant 13/73 O75445-3

Frequencies

GnomAD3 genomes
AF:
0.000500
AC:
76
AN:
152122
Hom.:
0
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.000121
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.000655
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.000882
Gnomad OTH
AF:
0.000479
GnomAD3 exomes
AF:
0.000757
AC:
190
AN:
250832
Hom.:
0
AF XY:
0.000723
AC XY:
98
AN XY:
135520
show subpopulations
Gnomad AFR exome
AF:
0.000246
Gnomad AMR exome
AF:
0.00179
Gnomad ASJ exome
AF:
0.00
Gnomad EAS exome
AF:
0.00
Gnomad SAS exome
AF:
0.00
Gnomad FIN exome
AF:
0.00
Gnomad NFE exome
AF:
0.000998
Gnomad OTH exome
AF:
0.00180
GnomAD4 exome
AF:
0.000994
AC:
1453
AN:
1461798
Hom.:
2
Cov.:
31
AF XY:
0.000952
AC XY:
692
AN XY:
727208
show subpopulations
Gnomad4 AFR exome
AF:
0.000299
Gnomad4 AMR exome
AF:
0.00165
Gnomad4 ASJ exome
AF:
0.00
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.0000116
Gnomad4 FIN exome
AF:
0.00
Gnomad4 NFE exome
AF:
0.00119
Gnomad4 OTH exome
AF:
0.000662
GnomAD4 genome
AF:
0.000500
AC:
76
AN:
152122
Hom.:
0
Cov.:
32
AF XY:
0.000444
AC XY:
33
AN XY:
74292
show subpopulations
Gnomad4 AFR
AF:
0.000121
Gnomad4 AMR
AF:
0.000655
Gnomad4 ASJ
AF:
0.00
Gnomad4 EAS
AF:
0.00
Gnomad4 SAS
AF:
0.00
Gnomad4 FIN
AF:
0.00
Gnomad4 NFE
AF:
0.000882
Gnomad4 OTH
AF:
0.000479
Alfa
AF:
0.000582
Hom.:
0
Bravo
AF:
0.000706
EpiCase
AF:
0.00109
EpiControl
AF:
0.000533

ClinVar

Significance: Conflicting classifications of pathogenicity
Submissions summary: Pathogenic:49Uncertain:1Other:2
Revision: criteria provided, conflicting classifications
LINK: link

Submissions by phenotype

Usher syndrome type 2A Pathogenic:11Uncertain:1
Pathogenic, no assertion criteria providedclinical testingNatera, Inc.Apr 03, 2020- -
Pathogenic, criteria provided, single submitterclinical testingIllumina Laboratory Services, IlluminaJan 11, 2023The USH2A c.2299del (p.Glu767SerfsTer21) variant results in the deletion of a nucleotide at position c.2299, causing a shift in the protein reading frame that is predicted to result in premature termination of the protein. Loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay is predicted, though RNA expression studies performed on nasal epithelial cells suggest that the c.2299del variant could alternately disrupt splicing, leading to skipping of exon 13 or exons 12 and 13 (PMID: 24607488). The c.2299del variant is the most common disease-causing variant in the USH2A gene, and is estimated to account for over 20% of disease-causing alleles among individuals with Usher syndrome type 2, but has also been reported in individuals with non-syndromic retinitis pigmentosa (PMID: 9624053; PMID: 20301515, GeneReviews NBK1341; PMID: 25649381; PMID: 29953849; PMID: 36011334). The highest frequency of this allele in the Genome Aggregation Database is 0.001778 in the Latino/Admixed American population (version 2.1.1). Based on the available evidence, the c.2299del (p.Glu767SerfsTer21) variant is classified as pathogenic for Usher syndrome type 2. -
Pathogenic, criteria provided, single submitterclinical testingGenome-Nilou LabNov 04, 2023- -
Pathogenic, criteria provided, single submitterclinical testingDBGen Ocular GenomicsJun 28, 2021- -
Pathogenic, criteria provided, single submitterclinical testingVictorian Clinical Genetics Services, Murdoch Childrens Research InstituteMay 06, 2021Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with Usher syndrome, type 2A (MIM#276901). (I) 0106 - This gene is associated with autosomal recessive disease. (I) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (premature termination codon is located at least 54 nucleotides upstream of the final exon-exon junction). (SP) 0251 - This variant is heterozygous. (I) 0304 - Variant is present in gnomAD v2 <0.01 for a recessive condition (198 heterozygotes, 0 homozygotes). (SP) 0701 - Other NMD-predicted variants comparable to the one identified in this case have very strong previous evidence for pathogenicity. Many NMD-predicted variants have been reported in patients with both retinitis pigmentosa and Usher syndrome (Decipher, ClinVar). (SP) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant is one of the most common variants in the USH2A gene, and has been reported in patients with both Usher syndrome and retinitis pigmentosa (ClinVar, PMID: 29953849). (SP) 1206 - This variant has been shown to be paternally inherited. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign -
Pathogenic, criteria provided, single submitterclinical testingMyriad Genetics, Inc.Dec 17, 2019NM_206933.2(USH2A):c.2299delG(aka E767Sfs*21) is classified as pathogenic in the context of USH2A-related disorders. Sources cited for classification include the following: PMID 10909849 and 24607488. Classification of NM_206933.2(USH2A):c.2299delG(aka E767Sfs*21)is based on the following criteria: The variant causes a premature termination codon that is expected to be targeted by nonsense-mediated mRNA decay and is reported in individuals with the relevant phenotype. Please note: this variant was assessed in the context of healthy population screening. -
Pathogenic, criteria provided, single submitterclinical testingBaylor Genetics-- -
Pathogenic, criteria provided, single submitterclinical testingGenomics England Pilot Project, Genomics England-- -
Pathogenic, criteria provided, single submitterclinical testingCentre for Genomic Medicine, Manchester, Central Manchester University HospitalsFeb 01, 2019- -
Uncertain significance, criteria provided, single submitterclinical testingInstitute of Human Genetics, University of Leipzig Medical CenterNov 23, 2023Criteria applied: PVS1, PM3_VSTR, PP1_MOD -
Pathogenic, criteria provided, single submitterclinical testingGenetics and Molecular Pathology, SA PathologyApr 07, 2022The USH2A c.2299del variant is classified as PATHOGENIC (PVS1, PS4, PM3) This USH2A c.2299del variant is located in exon 13/72 and is predicted to cause a shift in the reading frame at codon 767 (PVS1). This recurrent variant has been reported as the most common USH2A pathogenic variant (PMID: 20301515, PMID:9624053, PMID:22135276, PMID:24607488) (PS4). This variant has been detected in trans with another pathogenic variant for this recessive condition in both this individual and in other reported cases in the literature (PM3) and has also been reported as pathogenic in a homozygous state. This variant is in dbSNP (rs80338903) and has been reported as pathogenic for Usher syndrome and Retinitis pigmentosa by other diagnostic laboratories in ClinVar (ClinVar Variation ID: 2351) and in the disease database HGMD (CD982997). -
Pathogenic, no assertion criteria providedliterature onlyOMIMDec 01, 2009- -
not provided Pathogenic:11
Pathogenic, criteria provided, single submitterclinical testingRevvity Omics, RevvityNov 24, 2021- -
Pathogenic, no assertion criteria providedclinical testingJoint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+-- -
Pathogenic, criteria provided, single submitterclinical testingKnight Diagnostic Laboratories, Oregon Health and Sciences UniversitySep 26, 2017- -
Pathogenic, no assertion criteria providedclinical testingDiagnostic Laboratory, Department of Genetics, University Medical Center Groningen-- -
Pathogenic, criteria provided, single submitterclinical testingInvitaeJan 30, 2024This sequence change creates a premature translational stop signal (p.Glu767Serfs*21) in the USH2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). This variant is present in population databases (rs80338903, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This premature translational stop signal has been observed in individuals with non-syndromic autosomal recessive retinitis pigmentosa and is a common Usher syndrome type II allele (PMID: 9624053, 11402400, 14970843, 15325563, 25097241, 25404053). This variant is also known as 2314delG. ClinVar contains an entry for this variant (Variation ID: 2351). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. -
Pathogenic, no assertion criteria providedclinical testingClinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center-- -
Pathogenic, criteria provided, single submitterclinical testingEurofins Ntd Llc (ga)Oct 14, 2016- -
Pathogenic, criteria provided, single submitterclinical testingCeGaT Center for Human Genetics TuebingenMay 01, 2023USH2A: PVS1, PM3:Strong, PM2 -
Pathogenic, no assertion criteria providedclinical testingClinical Genetics, Academic Medical Center-- -
Pathogenic, criteria provided, single submitterclinical testingInstitute of Medical Genetics and Applied Genomics, University Hospital TübingenOct 23, 2020- -
Pathogenic, criteria provided, single submitterclinical testingGeneDxJan 13, 2020Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 22581970, 9624053, 32141364, 27344577, 20145675, 29847639, 23352160, 18665195, 26872967, 12525556, 11402400, 24607488, 29151245, 25097241, 15325563, 14970843, 26969326, 24160897, 25404053, 27460420, 22135276, 23924366, 17296898, 25649381, 24944099, 22495311, 21234346, 21174530, 11311042, 10775529, 10729113, 26633545, 10909849, 23891399, 20301515, 15025721, 12112664, 19881469, 17405132, 10090909, 30337596, 28157192, 28838317, 29953849, 31231422, 31266775, 32581362, 31827275, 31980526, 32176120, 32036094, 32664777, 31589614, 33576794, 30755392, 32853555) -
Retinitis pigmentosa 39 Pathogenic:7
Pathogenic, criteria provided, single submitterclinical testingGenome-Nilou LabNov 04, 2023- -
Pathogenic, criteria provided, single submitterclinical testingBaylor GeneticsJun 28, 2015This variant has been previously reported as disease-causing and was found once in our laboratory with 2 missense variants [G2224C, E3448K; phase undetermined] in a 32-year-old female with retinitis pigmentosa. Variant pathogenic in recessive state; heterozygotes are carriers. -
Pathogenic, no assertion criteria providedclinical testingCounsylAug 18, 2016- -
Pathogenic, criteria provided, single submitterclinical testing3billionMay 22, 2022The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.070%). Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000002351). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. -
Pathogenic, criteria provided, single submitterresearchOcular Genomics Institute, Massachusetts Eye and EarApr 08, 2021The USH2A c.2299del variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PM3, PP1, PP3. Based on this evidence we have classified this variant as Pathogenic. -
Pathogenic, criteria provided, single submitterclinical testingGenomics England Pilot Project, Genomics England-- -
Pathogenic, no assertion criteria providedclinical testingJoint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+Sep 01, 2016- -
Usher syndrome Pathogenic:4
Pathogenic, no assertion criteria providedresearchDepartment of Clinical Genetics, Copenhagen University Hospital, RigshospitaletApr 01, 2018- -
Pathogenic, no assertion criteria providedresearchNIHR Bioresource Rare Diseases, University of CambridgeJan 01, 2015- -
Pathogenic, criteria provided, single submitterresearchOphthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology BaselJul 24, 2023Clinical significance based on ACMG v2.0 -
Pathogenic, criteria provided, single submitterclinical testingWomen's Health and Genetics/Laboratory Corporation of America, LabCorpOct 25, 2019Variant summary: USH2A c.2299delG (p.Glu767SerfsX21) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 0.00076 in 250832 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in USH2A causing Usher syndrome (0.00076 vs 0.013), allowing no conclusion about variant significance. c.2299delG has been reported in the literature in multiple individuals affected with Usher syndrome. This variant appears to be a common USH2A mutation contributing to Usher Syndrome Type II (e.g. Aller_2004, Calzetti_2018 and Gene Reviews). Lenassi et al suggest that this change could disrupt an exonic splicing enhancer and create an exonic splicing silencer within exon 13 and therefore affect splicing of exons 12 and 13 of USH2A (Lenassi_2014). Nine ClinVar submitters (evaluation after 2014) cite this variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. -
Retinitis pigmentosa Pathogenic:3Other:1
not provided, no classification providedliterature onlyGeneReviews-- -
Pathogenic, no assertion criteria providedresearchNIHR Bioresource Rare Diseases, University of CambridgeJan 01, 2015- -
Pathogenic, no assertion criteria providedresearchDepartment of Clinical Genetics, Copenhagen University Hospital, RigshospitaletApr 01, 2018- -
Pathogenic, criteria provided, single submittercurationBroad Center for Mendelian Genomics, Broad Institute of MIT and HarvardApr 01, 2021The p.Glu767SerfsTer21 variant in USH2A was identified in an individual with Retinitis pigmentosa, via a collaborative study between the Broad Institute's Center for Mendelian Genomics and the Pierce lab (https://oculargenomics.meei.harvard.edu/labs/pierce-lab/lab-members/). Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PM3, PP1, PP3. Based on this evidence we have classified this variant as Pathogenic. If you have any questions about the classification please reach out to the Pierce Lab. -
USH2A-Related Disorders Pathogenic:2Other:1
not provided, no classification providedphenotyping onlyGenomeConnect, ClinGen-Variant interpreted as Pathogenic and reported on 06-28-2019 by Lab or GTR ID 500188. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. -
Pathogenic, criteria provided, single submitterresearchUNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill-The c.2299delG (p.E767Sfs) variant is one of the most common pathogenic variants in USH2A and has been previously reported in multiple individuals with Usher syndrome type IIA or nonsyndromic retinitis pigmentosa (PMID: 18641288; 11402400; 15326663). -
Pathogenic, criteria provided, single submitterclinical testingDASAJan 05, 2022The c.2299del;p.(Glu767Serfs*21) is a null frameshift variant (NMD) in the USH2A gene and predicts alteration of the nonsense-mediate decay - NMD is present in a relevantexon to the transcript - PVS1. This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (Clinvar ID: 2351; PMID: 20301515; 31836858; 30718709; 29953849;25649381; 25404053; 23924366; 12525556) - PS4. The variant is present at low allele frequencies population databases (rs80338903– gnomAD 0.04996%; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2_supporting. The p.(Glu767Serfs*21) was detected in trans with a pathogenic variant (PMID: 31836858; 30718709; 29953849;25649381; 25404053; 23924366; 12525556) - PM3_strong. The variant co-segregated with disease in multiple affected family members (PMID: 23924366; 12525556) - PP1. In summary, the currently available evidence indicates that the variant is pathogenic. -
Retinal dystrophy Pathogenic:2
Pathogenic, criteria provided, single submitterclinical testingBlueprint GeneticsAug 15, 2019- -
Pathogenic, no assertion criteria providedclinical testingCentre for Genomic Medicine, Manchester, Central Manchester University HospitalsJan 30, 2015- -
Inborn genetic diseases Pathogenic:1
Pathogenic, criteria provided, single submitterclinical testingAmbry GeneticsMar 03, 2020The alteration results in a premature stop codon: _x000D_ _x000D_ The c.2299delG (p.E767Sfs*21) alteration, located in exon 13 (coding exon 12) of the USH2A gene, consists of a deletion of one nucleotide at position 2299, causing a translational frameshift with a predicted alternate stop codon after 21 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. The alteration has been observed in affected individuals:_x000D_ _x000D_ The c.2299delG alteration is the most common alteration found in Usher syndrome type II (Ouyang, 2004; Baux, 2007). Based on the available evidence, this alteration is classified as pathogenic. -
Usher syndrome;C5680250:Rare genetic deafness Pathogenic:1
Pathogenic, criteria provided, single submitterclinical testingLaboratory for Molecular Medicine, Mass General Brigham Personalized MedicineSep 30, 2014The p.Glu767fs variant in USH2A is a common pathogenic variant known to be assoc iated with Usher syndrome (Weston 2000, Dreyer 2000, Dreyer 2001, Najera 2002, O uyang 2004, Aller 2004). -
Macular dystrophy Pathogenic:1
Pathogenic, no assertion criteria providedresearchDepartment of Clinical Genetics, Copenhagen University Hospital, RigshospitaletApr 01, 2018- -
not specified Pathogenic:1
Pathogenic, criteria provided, single submitterclinical testingARUP Laboratories, Molecular Genetics and Genomics, ARUP LaboratoriesJul 31, 2018The Glu767fs variant (rs80338903) has been observed in multiple cohorts of patients with Usher Syndrome, Type II (selected references: Eudy 1998, Dreyer 2001, Aller 2010). It is one of the most common pathogenic alleles of USH2A, and it is estimated that this variant accounts for 16% (Weston 2000) to 76% (Ouyang 2004) of all pathogenic USH2A variant. This variant is listed in the Genome Aggregation Database (gnomAD) database with a frequency in Latino populations of 0.20% (identified in 34 out of 34,442 chromosomes). -
Usher syndrome type 2A;C3151138:Retinitis pigmentosa 39 Pathogenic:1
Pathogenic, criteria provided, single submitterclinical testingFulgent Genetics, Fulgent GeneticsMar 30, 2022- -
USH2A-related condition Pathogenic:1
Pathogenic, criteria provided, single submitterclinical testingPreventionGenetics, part of Exact SciencesDec 27, 2023The USH2A c.2299delG variant is predicted to result in a frameshift and premature protein termination (p.Glu767Serfs*21). This variant has been documented as causative for Usher syndrome (Eudy et al. 1998. PubMed ID: 9624053; Aller et al. 2010. PubMed ID: 20145675; Aparisi et al. 2014. PubMed ID: 25404053). This variant is reported in 0.18% of alleles in individuals of Latino descent in gnomAD. Frameshift variants in USH2A are expected to be pathogenic. This variant is interpreted as pathogenic. -
Cone-rod dystrophy Pathogenic:1
Pathogenic, no assertion criteria providedresearchDepartment of Clinical Genetics, Copenhagen University Hospital, RigshospitaletApr 01, 2018- -
Anxiety;C0013363:Abnormal autonomic nervous system physiology;C0150055:Chronic pain;C0158118:Multiple joint contractures;C0240635:High palate;C0265213:Distal arthrogryposis;C0265563:Dislocated radial head;C0338656:Cognitive impairment;C0349588:Short stature;C2673700:Brisk reflexes;C4020900:Abnormality of the upper limb;C4021387:Abnormality of upper limb joint;C4022458:Abnormal upper limb bone morphology Pathogenic:1
Pathogenic, criteria provided, single submitterclinical testingCenter for Personalized Medicine, Children's Hospital Los Angeles-- -
Congenital stationary night blindness Pathogenic:1
Pathogenic, no assertion criteria providedresearchDepartment of Clinical Genetics, Copenhagen University Hospital, RigshospitaletApr 01, 2018- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

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: rs80338903; hg19: chr1-216420436; API