11-47337564-C-T

Position:

chr11-47337564-C-T

Variant summary

Our verdict is Likely pathogenic. Variant got 7 ACMG points: 7P and 0B. PM1PM5PP3_ModeratePP5

The NM_000256.3(MYBPC3):c.2429G>A(p.Arg810His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000719 in 1,613,846 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R810L) has been classified as Pathogenic.

Frequency

Genomes: 𝑓 0.000053 ( 0 hom., cov: 31)

Exomes 𝑓: 0.000074 ( 0 hom. )

Consequence

MYBPC3
NM_000256.3 missense

Scores

Clinical Significance

Conflicting classifications of pathogenicity criteria provided, conflicting classifications P:12U:4

Conservation

PhyloP100: 7.57

Variant links:

Genes affected

MYBPC3 (HGNC:7551): (myosin binding protein C3) MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3 is expressed exclusively in heart muscle and is a key regulator of cardiac contraction. Mutations in this gene are a frequent cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, May 2022]

MYBPC3 links:

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Likely_pathogenic. Variant got 7 ACMG points.

PM1

In a domain Fibronectin type-III 1 (size 96) in uniprot entity MYPC3_HUMAN there are 31 pathogenic changes around while only 3 benign (91%) in NM_000256.3

PM5

Other missense variant is known to change same aminoacid residue: Variant chr11-47337564-C-A is described in Lovd as [Pathogenic].

PP3

MetaRNN computational evidence supports a deleterious effect, 0.852

PP5

Variant 11-47337564-C-T is Pathogenic according to our data. Variant chr11-47337564-C-T is described in ClinVar as [Conflicting_classifications_of_pathogenicity]. Clinvar id is 42620.We mark this variant Likely_pathogenic, oryginal submissions are: {Uncertain_significance=2, Likely_pathogenic=11}. Variant chr11-47337564-C-T is described in Lovd as [Pathogenic].

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
MYBPC3	NM_000256.3 linkuse as main transcript	c.2429G>A	p.Arg810His	missense_variant	25/35	ENST00000545968.6	NP_000247.2	Q14896-1A5YM48

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	UniProt
MYBPC3	ENST00000545968.6 linkuse as main transcript	c.2429G>A	p.Arg810His	missense_variant	25/35	5	NM_000256.3	ENSP00000442795.1	Q14896-1
MYBPC3	ENST00000399249.6 linkuse as main transcript	c.2429G>A	p.Arg810His	missense_variant	24/34	5		ENSP00000382193.2	A8MXZ9
MYBPC3	ENST00000544791.1 linkuse as main transcript	n.2414-53G>A		intron_variant		5		ENSP00000444259.1	F5GZR4

Frequencies

GnomAD3 genomes

AF:

0.0000526

AC:

AN:

152184

Hom.:

Cov.:

show subpopulations

Gnomad AFR

AF:

0.0000241

Gnomad AMI

AF:

0.00

Gnomad AMR

AF:

0.00

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:

0.000103

Gnomad OTH

AF:

0.00

GnomAD3 exomes

AF:

0.0000482

AC:

AN:

249184

Hom.:

AF XY:

0.0000666

AC XY:

AN XY:

135176

show subpopulations

Gnomad AFR exome

AF:

0.00

Gnomad AMR exome

AF:

0.0000290

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:

0.0000974

Gnomad OTH exome

AF:

0.00

GnomAD4 exome

AF:

0.0000739

AC:

108

AN:

1461662

Hom.:

Cov.:

AF XY:

0.0000825

AC XY:

AN XY:

727108

show subpopulations

Gnomad4 AFR exome

AF:

0.00

Gnomad4 AMR exome

AF:

0.0000224

Gnomad4 ASJ exome

AF:

0.00

Gnomad4 EAS exome

AF:

0.0000252

Gnomad4 SAS exome

AF:

0.0000116

Gnomad4 FIN exome

AF:

0.00

Gnomad4 NFE exome

AF:

0.0000935

Gnomad4 OTH exome

AF:

0.0000166

GnomAD4 genome

AF:

0.0000526

AC:

AN:

152184

Hom.:

Cov.:

AF XY:

0.0000942

AC XY:

AN XY:

74334

show subpopulations

Gnomad4 AFR

AF:

0.0000241

Gnomad4 AMR

AF:

0.00

Gnomad4 ASJ

AF:

0.00

Gnomad4 EAS

AF:

0.00

Gnomad4 SAS

AF:

0.00

Gnomad4 FIN

AF:

0.00

Gnomad4 NFE

AF:

0.000103

Gnomad4 OTH

AF:

0.00

Bravo

AF:

0.0000604

ESP6500AA

AF:

0.00

AC:

ESP6500EA

AF:

0.000118

AC:

ExAC

AF:

0.0000330

AC:

EpiCase

AF:

0.000109

EpiControl

AF:

0.000356

ClinVar

Significance: Conflicting classifications of pathogenicity

Submissions summary: Pathogenic:12Uncertain:4

Revision: criteria provided, conflicting classifications

LINK: link

Submissions by phenotype

Hypertrophic cardiomyopathy

Pathogenic:5

Likely pathogenic, criteria provided, single submitter	clinical testing	All of Us Research Program, National Institutes of Health	Sep 27, 2024	This missense variant replaces arginine with histidine at codon 810 in the fibronectin type 3 domain C6 of the MYBPC3 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). A functional study has shown that this variant had a 44% prolonged MyBPC protein half-life compared to wild-type (PMID: 32841044). However, clinical relevance of this observation is not clear. This variant has been reported in over 30 individuals affected with hypertrophic cardiomyopathy (PMID: 12951062, 15519027, 15936968, 20031618, 20624503, 21185001, 21302287, 25524337, 26090888, 27483260, 27532257, 27600940, 35626289). One of these individuals also carried a different pathogenic missense variant in the MYBPC3 gene (PMID: 12951062). This variant has been reported in homozygosity in two individuals affected with hypertrophic cardiomyopathy (PMID: 12951062, 30847666). It has been shown that this variant segregates with disease in multiple affected individuals in several families (PMID: 21185001; communication with an external laboratory, ClinVar Variation ID: 42620). This variant has been identified in 12/249184 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Likely Pathogenic. -
Likely pathogenic, no assertion criteria provided	research	Zaffran Lab, Genetics of Cardiac Diseases Laboratory, Marseille Medical Genetics	-	- -
Likely pathogenic, criteria provided, single submitter	clinical testing	Labcorp Genetics (formerly Invitae), Labcorp	Jan 20, 2024	This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 810 of the MYBPC3 protein (p.Arg810His). This variant is present in population databases (rs375675796, gnomAD 0.01%). This missense change has been observed in individuals with hypertrophic cardiomyopathy ‚Äã (PMID: 15519027, 25524337, 27483260, 28615295; Invitae). ClinVar contains an entry for this variant (Variation ID: 42620). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant disrupts the p.Arg810 amino acid residue in MYBPC3. Other variant(s) that disrupt this residue have been observed in individuals with MYBPC3-related conditions (PMID: 25524337), which suggests that this may be a clinically significant amino acid residue. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. -
Likely pathogenic, criteria provided, single submitter	clinical testing	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	Aug 05, 2021	The p.Arg810His variant in MYBPC3 has been identified in the heterozygous state in >35 individuals with HCM and segregated with disease in 3 affected relatives from 3 families (Nanni 2003 PMID: 12951062, Van Driest 2004 PMID: 15519027, Van Driest 2005 PMID: 15936968, Kaski 2009 PMID: 20031618, Roncarati 2011 PMID: 21302287, Maron 2011 PMID: 21185001, Rubattu 2015 PMID: 27483260, Walsh 2017 PMID: 27532257, Invitae pers. comm., Ambry pers. comm., GeneDx pers. comm., LMM data). It was also identified in 9 individuals with additional disease-causing variants in cardiomyopathy related genes (Nanni 2003 PMID: 12951062, Van Driest 2005 PMID: 15936968, Liu 2015 PMID: 26090888, Ambry pers. comm., GeneDx pers. comm., LMM data). On average, these individuals with a second variant had an earlier age of onset than the heterozygous individuals. This variant has also been identified in 0.009% (11/112984) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org) and has been reported by other clinical laboratories in ClinVar (Variation ID# 42620). Computational prediction tools and conservation analyses are consistent with pathogenicity. Based on criteria selected, this variant would be classified as uncertain significance; however, the available evidence is sufficiently borderline and the earlier age of onset in individuals with additional disease-causing variants provided additional evidence not accounted for by the current rules. Therefore, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal dominant HCM. ACMG/AMP Criteria applied: PS4_Moderate, PP1, PP3, with adjustment based on clinical judgment. -
Likely pathogenic, criteria provided, single submitter	clinical testing	Molecular Genetics, Royal Melbourne Hospital	Jul 07, 2023	This sequence change in MYBPC3 is predicted to replace arginine with histidine at codon 810, p.(Arg810His). The arginine residue is highly conserved (100 vertebrates, UCSC), and is located in the fibronectin (C6) type III domain (amino acids 774-870), a region that is defined as a mutational hotspot (PMID: 32841044). There is a small physicochemical difference between arginine and histidine. The highest population minor allele frequency in the population database gnomAD v2.1 is 0.01% (11/112,984 alleles) in the European (non-Finnish) population. This variant has been reported in multiple individuals with hypertrophic cardiomyopathy (HCM; PMID: 2861529, 15519027, 27483260, 27532257, 27600940, 25637381, 25351510, 20031618, 15936968, 21302287). Of those individuals, one individual was homozygous for the variant with a severe phenotype and one was compound heterozygous for the variant with a milder phenotype (PMID:12951062; 18761664). The prevalence of the variant in affected individuals is significantly increased compared with the prevalence in controls (OR = 39.3) (PMID: 32841044). The variant has been reported to segregate in two affected family members from one family with MYBPC3-related cardiomyopathy (PMID: 21158001). Computational evidence is uninformative for the missense substitution (REVEL = 0.618). Another missense variant (c.2429G>T p.Arg810Leu), with a similar physicochemical difference in the same codon has been classified as likely pathogenic for MYBPC3-related HCM (ClinVar Variation ID:181127). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.6.1, this variant is classified as LIKELY PATHOGENIC. Following criteria are met: PM1, PM3_Supporting, PS4 -

not provided

Pathogenic:2Uncertain:2

Likely pathogenic, criteria provided, single submitter	clinical testing	Clinical Genetics Laboratory, Skane University Hospital Lund	Dec 15, 2023	- -
Uncertain significance, criteria provided, single submitter	clinical testing	Eurofins Ntd Llc (ga)	Jan 02, 2018	- -
Likely pathogenic, criteria provided, single submitter	clinical testing	CeGaT Center for Human Genetics Tuebingen	Aug 01, 2024	MYBPC3: PM5, PS4:Moderate, PM2:Supporting, PP1 -
Uncertain significance, criteria provided, single submitter	clinical testing	GeneDx	Feb 05, 2024	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25335496, 15115610, 28790153, 25524337, 21302287, 20031618, 23299917, 25637381, 23549607, 18761664, 21185001, 12951062, 27483260, 27600940, 27532257, 15519027, 15936968, 25351510, 21415409, 30847666, 33558530, 28615295, 33782553, 34542152, 24033266, 32841044, 28408708, 35626289, 37396317, 20624503, 34400558, 22958901, 26090888, 36252119, 36243179, 36437915) -

Cardiomyopathy

Pathogenic:2

Likely pathogenic, criteria provided, single submitter	clinical testing	Color Diagnostics, LLC DBA Color Health	Nov 29, 2023	This missense variant replaces arginine with histidine at codon 810 in the fibronectin type 3 domain C6 of the MYBPC3 protein. Computational prediction tools indicate that this variant has a deleterious impact on protein structure and function. A functional study has shown that this variant had a 44% prolonged MyBPC protein half-life compared to wild-type (PMID: 32841044). However, clinical relevance of this observation is not clear. This variant has been reported in over 30 individuals affected with hypertrophic cardiomyopathy (PMID: 12951062, 15519027, 15936968, 20031618, 20624503, 21185001, 21302287, 25524337, 26090888, 27483260, 27532257, 27600940, 35626289, 37477868). One of these individuals also carried a different pathogenic missense variant in the MYBPC3 gene (PMID: 12951062). This variant has been reported in homozygosity in two individuals affected with hypertrophic cardiomyopathy (PMID: 12951062, 30847666). It has been shown that this variant segregates with disease in multiple affected individuals in several families (PMID: 21185001; ClinVar SCV000059138.7). This variant has been identified in 12/249184 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Likely Pathogenic. -
Likely pathogenic, criteria provided, single submitter	clinical testing	CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	Mar 15, 2023	- -

Hypertrophic cardiomyopathy 4

Pathogenic:2

Likely pathogenic, criteria provided, single submitter	clinical testing	Laboratory of Genetics and Molecular Cardiology, University of São Paulo	-	- -
Likely pathogenic, criteria provided, single submitter	clinical testing	Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	Oct 09, 2024	Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Likely pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with hypertrophic cardiomyopathy 4 (HCM; MIM#115197). (I) 0108 - This gene is associated with both recessive and dominant disease. Dominant inheritance is frequently reported in adult onset conditions, however recessive inheritance results in a more severe early onset phenotype (OMIM). (I) 0115 - Variants in this gene are known to have variable expressivity (PMID: 32841044). (I) 0200 - Variant is predicted to result in a missense amino acid change from arginine to histidine. (I) 0251 - Variant is heterozygous. (I) 0304 - Variant is present in gnomAD (v2&v3) <0.01 (20 heterozygotes, 0 homozygotes). (SP) 0309 - An alternative amino acid change at the same position has been observed in gnomAD (v3) (1 heterozygote, 0 homozygotes). (I) 0502 - Missense variant with conflicting in silico predictions and very high conservation. (I) 0602 - Variant is located in a hotspot region or cluster of pathogenic variants in the C6 domain (PMID: 32841044). (SP) 0708 - Other missense variants comparable to the one identified in this case have conflicting previous evidence for pathogenicity. Alternate changes to glycine and cysteine at the same residue have previously been reported as VUS. Additionally, an alternate change to leucine has been reported as both VUS and likely pathogenic (ClinVar, PMIDs: 20624503, 21835320, 28840316, 30847666). (I) 0802 - This variant has moderate previous evidence of pathogenicity in unrelated individuals. Historically, this variant had conflicting interpretations and was more commonly regarded as a VUS, however, more recent studies have upgraded the classification to likely pathogenic. The variant has been observed in more than thirty individuals with HCM. Additionally, individuals harbouring a second pathogenic variant, either compound heterozygous in MYBPC3 or in a different HCM-associated gene, generally present with a more severe phenotype than heterozygotes (ClinVar, VCGS, PMIDs: 12951062, 30847666, 32841044, 33558530). (SP) 1010 - Functional evidence for this variant is inconclusive. In a functional study using rat ventricular myocytes, the variant was not shown to impact myofilament assembly similar to pathogenic variants in the C10 domain, however it did show a significantly increased protein half-life compared to wild type. The authors concluded that further work is required to elucidate the pathogenic mechanism of variants located in the C3 and C6 domains (PMID: 32841044). (I) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign -

Cardiovascular phenotype

Pathogenic:1

Likely pathogenic, criteria provided, single submitter

clinical testing

Ambry Genetics

Sep 26, 2024

The p.R810H variant (also known as c.2429G>A), located in coding exon 25 of the MYBPC3 gene, results from a G to A substitution at nucleotide position 2429. The arginine at codon 810 is replaced by histidine, an amino acid with highly similar properties. This alteration has been reported in multiple unrelated individuals with hypertrophic cardiomyopathy (HCM), though in some cases, a second alteration was also detected or clinical details were limited (Van Driest et al. J Am Coll Cardiol. 2004;44(9):1903-10; Van Driest et al. Mol & Genet Metab. 2005;85(4):280-5; Kaski et al. Circ Cardiovasc Genet. 2009;2(5):436-41; Roncarati et al. Cell Physiol. 2011;226(11):2894-900; Coppini et al. J Am Coll Cardiol. 2014;64(24):2589-600; Liu et al. Sci Rep. 2015;5:11411; Bagnall RD et al. Circ Genom Precis Med. 2022 Dec;15(6):e003686; Field E et al. J Med Genet. 2022 Aug;59(8):768-775; Sepp R et al. Diagnostics (Basel). 2022 May;12(5)). One study reported this alteration in the homozygous state in an individual with a more severe presentation, and an additional publication reported this alteration to co-segregate with disease in two siblings (Nanni et al. Biochem Biophys Res Commun. 2003;309(2):391-8; Maron et al. Am J Cardiol. 2011;107(4):604-8). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic. -

not specified

Uncertain:1

Uncertain significance, no assertion criteria provided

clinical testing

Stanford Center for Inherited Cardiovascular Disease, Stanford University

Jul 29, 2015

Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. MYBPC3 p.Arg810His Seen in at least 29 presumably unrelated cases of HCM (5 published, 24 unpublished). In 11 of 27 cases who had sequencing of at least MYH7, MYBPC3, and TNNT2 had another variant (10 had another sarcomeric variant, 1 had an FRDA variant). -There is weak segregation data. In three families an additional affected relative carried Arg810His. In two other families an additional affected relative carried Arg810His in additional to another variant. -In total, the variant has been seen in 4 of ~60,751 individuals from published controls and publicly available datasets that approximate the general population. Nanni L et al. (2003) reported this variant in two patients diagnosed with HCM cared for in Rome who underwent analysis of MYH7, MYBPC3, and TNNT2. One of the two patients was homozygous for the variant and presented with dyspnea at age 39. He also showed severe hypertrophy (IVS 32 mm) and a LVOTO of 50 mmHg. Authors report a positive family history but no evidence was provided, and reported that he came from a closed community of a little town that may explain the homozygous genotype. The other patient, who also carries a second variant (MYBPC3-Arg820Gln) had moderate non-obstructive hypertrophy. Arg820Gln has conflicting classifications in ClinVar: LMM – likely pathogenic, GeneDx – Pathogenic, and Molecular Genetics Diagnostic Laboratory – VUS (at the time of our review). Ackerman’s group reported this variant in a patient with HCM. This cohort included 389 unrelated patients with HCM who were assessed for variants in eight HCM-associated genes (van Driest et al., (2004). The patient did not have any other sarcomere variants. However, the same group later reported a novel variant in FRDA gene (Arg40Cys) associated with Fredeich ataxia in this patient (Van Driest S et al. 2005). They searched for variants in FRDA in 389 patients with clinical HCM who were previously assessed for variants in eight HCM-associated genes. None of the 389 patients had a clinical diagnosis of Friedreich ataxia and the FRDA trinucleotide repeat expansion size was normal on both alleles. The double heterozygous patient was diagnosed with unequivocal and unexplained cardiac hypertrophy at 12 years of age but remained clinically asymptomatic until age 32. He underwent ICD placement due to recurrent ventricular fibrillation and received multiple appropriate shocks. He went on to develop left ventricular systolic dysfunction (ejection fraction 35%). No evidence of disease was found in any of his living first degree relatives. The authors propose that the combination of the MYBPC3 variant and the FRDA variant lead to his HCM. They argued that the young diagnosis, arrhythmic burden, and heart failure are all atypical for MYBPC3-associated HCM. They note no neurological involvement. McKenna’s group reported this variant in one out of 79 HCM patients with diagnosis under 13 years old recruited in the UK (Kaski et al. 2009). No individual phenotype, genotype or ancestry information was reported. They sequenced 9 sarcomere genes (MYH7, MYBPC3, TNNI3, TNNT2, TPM1, MYL2, MYL3, ACTC, and TNNC1), the genes encoding desmin (DES), and the gamma-2 subunit of AMP kinase (PRKAG2). The paper states that a total of 5/79 patients were double heterozygotes in MYBPC3 gene, but it doesn’t mention which variants in this gene were found in these individuals. Therefore, the variant zygosity of this patient is equivocal. Maron and Semsarian reported this variant in two brothers with HCM (Maron et al 2011). One of the brothers has two unaffected daughters (aged 10 and 12), who are hetrozygous for this variant but had normal echocardiograms at that tim -

Primary familial hypertrophic cardiomyopathy

Uncertain:1

Uncertain significance, no assertion criteria provided

research

CSER _CC_NCGL, University of Washington

Jun 01, 2014

- -

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

AlphaMissense

Pathogenic

0.65

CardioboostCm

Pathogenic

0.98

BayesDel_addAF

Pathogenic

0.19

BayesDel_noAF

Pathogenic

0.24

CADD

Pathogenic

DANN

Pathogenic

1.0

DEOGEN2

Uncertain

0.46

T;T;T

Eigen

Pathogenic

0.81

Eigen_PC

Pathogenic

0.75

FATHMM_MKL

Uncertain

0.94

LIST_S2

Pathogenic

1.0

D;D;D

M_CAP

Uncertain

0.26

MetaRNN

Pathogenic

0.85

D;D;D

MetaSVM

Uncertain

-0.18

MutationAssessor

Pathogenic

3.1

M;.;.

PrimateAI

Uncertain

0.72

PROVEAN

Pathogenic

-4.6

D;.;D

REVEL

Uncertain

0.62

Sift

Uncertain

0.0010

D;.;D

Sift4G

Uncertain

0.0020

D;D;D

Vest4

0.90

MVP

0.90

MPC

0.93

ClinPred

0.86

GERP RS

4.6

Varity_R

0.71

gMVP

0.75

Splicing

Name

Calibrated prediction

Score

Prediction

SpliceAI score (max)

0.020

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.

Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

ClinVar

Submissions by phenotype

Computational scores

Splicing

Publications

LitVar

Other links and lift over