7-117611650-G-A

Position:

chr7-117611650-G-A

Variant summary

Our verdict is Likely pathogenic. Variant got 7 ACMG points: 8P and 1B. PM1PM5PP5_StrongBP4

The NM_000492.4(CFTR):c.3209G>A(p.Arg1070Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000307 in 1,613,422 control chromosomes in the GnomAD database, including 6 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as drug response (★★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R1070W) has been classified as Pathogenic.

Frequency

Genomes: 𝑓 0.00030 ( 0 hom., cov: 31)

Exomes 𝑓: 0.00031 ( 6 hom. )

Consequence

CFTR
NM_000492.4 missense

Scores

Clinical Significance

drug response reviewed by expert panel P:19U:4O:1

Conservation

PhyloP100: 9.94

Variant links:

Genes affected

CFTR (HGNC:1884): (CF transmembrane conductance regulator) This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017]

CFTR links:

(HGNC:):

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 topological_domain Cytoplasmic (size 60) in uniprot entity CFTR_HUMAN there are 21 pathogenic changes around while only 1 benign (95%) in NM_000492.4

PM5

Other missense variant is known to change same aminoacid residue: Variant chr7-117611649-C-T is described in Lovd as [Pathogenic].

PP5

Variant 7-117611650-G-A is Pathogenic according to our data. Variant chr7-117611650-G-A is described in ClinVar as [drug_response]. Clinvar id is 35866.Status of the report is reviewed_by_expert_panel, 3 stars. We mark this variant Likely_pathogenic, oryginal submissions are: {Likely_pathogenic=4, drug_response=1, Uncertain_significance=4, Pathogenic=13}. Variant chr7-117611650-G-A is described in Lovd as [Pathogenic]. Variant chr7-117611650-G-A is described in Lovd as [Pathogenic]. Variant chr7-117611650-G-A is described in Lovd as [Pathogenic]. Variant chr7-117611650-G-A is described in Lovd as [Likely_pathogenic]. Variant chr7-117611650-G-A is described in Lovd as [Likely_pathogenic].

BP4

Computational evidence support a benign effect (MetaRNN=0.019629806). . Strength limited to SUPPORTING due to the PP5.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
CFTR	NM_000492.4 linkuse as main transcript	c.3209G>A	p.Arg1070Gln	missense_variant	20/27	ENST00000003084.11	NP_000483.3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
CFTR	ENST00000003084.11 linkuse as main transcript	c.3209G>A	p.Arg1070Gln	missense_variant	20/27	1	NM_000492.4	ENSP00000003084	P2	P13569-1
	ENST00000456270.1 linkuse as main transcript	n.177+4579C>T		intron_variant, non_coding_transcript_variant		3

Frequencies

GnomAD3 genomes

AF:

0.000296

AC:

AN:

151944

Hom.:

Cov.:

show subpopulations

Gnomad AFR

AF:

0.000145

Gnomad AMI

AF:

0.00

Gnomad AMR

AF:

0.00

Gnomad ASJ

AF:

0.00

Gnomad EAS

AF:

0.00

Gnomad SAS

AF:

0.00767

Gnomad FIN

AF:

0.00

Gnomad MID

AF:

0.00

Gnomad NFE

AF:

0.0000294

Gnomad OTH

AF:

0.00

GnomAD3 exomes

AF:

0.000610

AC:

153

AN:

250926

Hom.:

AF XY:

0.000782

AC XY:

106

AN XY:

135614

show subpopulations

Gnomad AFR exome

AF:

0.000246

Gnomad AMR exome

AF:

0.00

Gnomad ASJ exome

AF:

0.00

Gnomad EAS exome

AF:

0.0000544

Gnomad SAS exome

AF:

0.00467

Gnomad FIN exome

AF:

0.00

Gnomad NFE exome

AF:

0.0000441

Gnomad OTH exome

AF:

0.00

GnomAD4 exome

AF:

0.000309

AC:

451

AN:

1461360

Hom.:

Cov.:

AF XY:

0.000432

AC XY:

314

AN XY:

726980

show subpopulations

Gnomad4 AFR exome

AF:

0.000269

Gnomad4 AMR exome

AF:

0.0000224

Gnomad4 ASJ exome

AF:

0.00

Gnomad4 EAS exome

AF:

0.000176

Gnomad4 SAS exome

AF:

0.00451

Gnomad4 FIN exome

AF:

0.00

Gnomad4 NFE exome

AF:

0.0000225

Gnomad4 OTH exome

AF:

0.000298

GnomAD4 genome

AF:

0.000296

AC:

AN:

152062

Hom.:

Cov.:

AF XY:

0.000471

AC XY:

AN XY:

74332

show subpopulations

Gnomad4 AFR

AF:

0.000145

Gnomad4 AMR

AF:

0.00

Gnomad4 ASJ

AF:

0.00

Gnomad4 EAS

AF:

0.00

Gnomad4 SAS

AF:

0.00767

Gnomad4 FIN

AF:

0.00

Gnomad4 NFE

AF:

0.0000294

Gnomad4 OTH

AF:

0.00

Alfa

AF:

0.000106

Hom.:

Bravo

AF:

0.0000945

ESP6500AA

AF:

0.000227

AC:

ESP6500EA

AF:

0.00

AC:

ExAC

AF:

0.000799

AC:

Asia WGS

AF:

0.00231

AC:

AN:

3478

EpiCase

AF:

0.0000546

EpiControl

AF:

0.00

ClinVar

Significance: drug response

Submissions summary: Pathogenic:19Uncertain:4Other:1

Revision: reviewed by expert panel

LINK: link

Submissions by phenotype

Cystic fibrosis

Pathogenic:7Uncertain:3

Uncertain significance, criteria provided, single submitter	clinical testing	Mendelics	Nov 05, 2018	- -
Pathogenic, criteria provided, single submitter	clinical testing	Neuberg Centre For Genomic Medicine, NCGM	-	The observed missense c.3209G>A(p.Arg1070Gln) variant in CFTR gene has been observed in the compound heterozygous state in multiple individuals affected with cystic fibrosis (Feldmann et al., 2003, Krasnov et al., 2008). Experimental studies have shown that this missense change affects CFTR function (Van Goor et al., 2014). The p.Arg1070Gln variant has been reported with allele frequency of 0.06% in gnomAD Exomes. This variant has been submitted to the ClinVar database as Uncertain Significance / Likely Pathogenic / Pathogenic (multiple submissions). The amino acid change p.Arg1070Gln in CFTR is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Pathogenic. In absence of another reportable variant in CFTR gene, the molecular diagnosis is not confirmed. -
Likely pathogenic, criteria provided, single submitter	clinical testing	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	Aug 27, 2024	Variant summary: CFTR c.3209G>A (p.Arg1070Gln) results in a conservative amino acid change located in the ABC transporter type 1, transmembrane domain (IPR011527) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00061 in 251348 control chromosomes in the gnomAD database, including 3 homozygotes. This frequency is not significantly higher than estimated for a pathogenic variant in CFTR causing Non-Classic Cystic Fibrosis (0.00061 vs 0.013), allowing no conclusion about variant significance. This variant has been reported in several patients with classic CF, non-classic CF, or CBAVD and in several patients it was observed in cis with p.S466X forming a complex allele (example, Krasnov_2008, Mercier_1994, Kanavakis_1005, Savov_1994, Tzetis_2007, Feldmann_2003, Sosnay_2013, Furlan_2016, Lucarelli_2015, Palermo_2016, Behar_2017, Ivanov_2018, Salvatore_2019, Frentescu_2008, Noni_2023). Available patient data suggests that in compound heterozygotes, this variant typically results in mild disease such as CF/NC and/or CBAVD, while in cis with p.S466X variant, it causes classic CF (Krasnov_2008). However, the variant has also been reported in trans with F508del in a CF patient with sweat chloride levels >60 mmol/L (without p.S466X in cis; Noni_2023). Although this variant is able to mature and reach the cell surface and was found to have no significant effect on chloride transport, it was found to cause relatively subtle channel defects with functional consequences of a lower open probability of the channel, lower cyclic AMP-stimulated iodide efflux, and lower bicarbonate transport (Seibert_1996, Krasnov_2008, Sosnay_2013, Choi_2001). In these studies, maturation assays were performed on HEK-293, MDCK and COS cells, and channel function and channel transport assays were performed on HEK293 and CHO cells. In FRT cells, however, chloride transport as well as maturation was 20.5% of normal but increased to 32.9% of normal after Ivacaftor treatment (Van Goor_2014) and 42.64% of normal chloride channel conductance relative to wild type (Bihler_2024). These functional differences might be due to the use of different cell lines in different studies and technical backgrounds; however, all of these studies are suggestive of a mild functional impairment for the variant in isolation. A different variant affecting the same codon has been classified as pathogenic by our lab (c.3208C>T, p.Arg1070Trp), supporting the critical relevance of codon 1070 to CFTR protein function. However, due to the varying and typically mild disease phenotypes in individuals with this variant, as well as the allele frequency and presence of homozygotes in the gnomAD database, this variant likely represents a hypomorphic allele. The following publications have been ascertained in the context of this evaluation (PMID: 25910067, 1284534, 25087612, 23974870, 8662892, 16049310, 7512860, 30561903, 27171515, 36272381, 19707853, 7529319, 17489851, 23891399, 15880796, 7544320, 29504914, 30930780, 26014425, 27209008, 18467194, 12955726, 11242048, 12007216, 28546993, 18951463, 38388235). ClinVar contains an entry for this variant (Variation ID: 35866). Based on the evidence outlined above, the variant was classified as likely pathogenic. -
Pathogenic, criteria provided, single submitter	clinical testing	Ambry Genetics	Oct 05, 2021	The p.R1070Q pathogenic mutation (also known as c.3209G>A), located in coding exon 20 of the CFTR gene, results from a G to A substitution at nucleotide position 3209. The arginine at codon 1070 is replaced by glutamine, an amino acid with highly similar properties. Functional studies have shown that this mutation does not affect protein processing (Seibert FS et al. J. Biol. Chem., 1996 Jun;271:15139-45; Sosnay PR et al. Nat. Genet., 2013 Oct;45:1160-7), but it was observed to decrease the open probability of the channel (Seibert FS et al. J. Biol. Chem., 1996 Jun;271:15139-45). This mutation has been reported as a variant of varying clinical consequence (VVCC) (Sosnay PR et al. Pediatr. Clin. North Am., 2016 08;63:585-98; The Clinical and Functional TRanslation of CFTR (CFTR2); available at http://cftr2.org. Accessed March 30, 2018); when in trans with a second disease causing mutation it may result in cystic fibrosis, CFTR-related disorders, or no phenotype (Bombieri C et al. Semin Respir Crit Care Med, 2015 Apr;36:180-93; Girardet A et al. Eur. J. Hum. Genet., 2016 Apr;24:469-78). Of note, this mutation has also been observed as part of a complex allele with p.S466* (Krasnov KV et al. Hum. Mutat., 2008 Nov;29:1364-72; Lucarelli M et al. Mol. Med., 2015 Apr;21:257-75). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. -
Uncertain significance, criteria provided, single submitter	curation	Institute of Human Genetics, University of Leipzig Medical Center	Sep 05, 2022	This variant was identified in 1 patient with a clinically confirmed diagnosis of cystic fibrosis. The variant was classified in the context of a project re-classifying variants in the German Cystic Fibrosis Registry (Muko.e.V.). Link: https://www.muko.info/angebote/qualitaetsmanagement/register/cf-einrichtungen/mukoweb. Criteria applied: PS3, PM3, PM5, PP3, PP4, BS2 -
Likely pathogenic, criteria provided, single submitter	literature only	Counsyl	May 18, 2014	- -
Uncertain significance, criteria provided, single submitter	clinical testing	Genome Diagnostics Laboratory, The Hospital for Sick Children	Aug 29, 2019	- -
Likely pathogenic, criteria provided, single submitter	clinical testing	Labcorp Genetics (formerly Invitae), Labcorp	Jan 25, 2024	This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1070 of the CFTR protein (p.Arg1070Gln). This variant is present in population databases (rs78769542, gnomAD 0.5%), including at least one homozygous and/or hemizygous individual. This missense change has been observed in individual(s) with cystic fibrosis or congenital bilateral absence of the vas deferens. While this variant is commonly found in cis with p.Ser466, it has also been observed without p.Ser466 in affected individuals and is expected to be causative for CFTR-related conditions whether p.Ser466* is present or not (PMID: 12955726, 18467194, 18951463, Invitae). Some individuals with this variant may present with milder symptoms. ClinVar contains an entry for this variant (Variation ID: 35866). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CFTR protein function with a negative predictive value of 80%. Experimental studies have shown that this missense change affects CFTR function (PMID: 8662892, 8702904, 11242048, 23891399). This variant disrupts the p.Arg1070 amino acid residue in CFTR. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 7539342, 16189704, 21520337, 23974870). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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. -
Pathogenic, criteria provided, single submitter	clinical testing	Centogene AG - the Rare Disease Company	-	- -
Likely pathogenic, criteria provided, single submitter	clinical testing	Genome-Nilou Lab	Jul 22, 2021	- -

not provided

Pathogenic:5Uncertain:1

Uncertain significance, criteria provided, single submitter	clinical testing	Blueprint Genetics	Jul 24, 2018	- -
Pathogenic, criteria provided, single submitter	clinical testing	Quest Diagnostics Nichols Institute San Juan Capistrano	Jul 07, 2023	The CFTR c.3209G>A (p.Arg1070Gln) variant has been reported in the published literature in individuals with cystic fibrosis (PMID: 7683628 (1993), 22658665 (2012), 30561903 (2019), 18951463 (2008), 29504914 (2018), 36272381 (2023)) and congenital bilateral absence of the vas deferens (CBAVD) (PMID: 12955726 (2003)). It was also found to cause a mild phenotype in the compound heterozygous state with a second CF-causing variant and was often associated with pancreatic insufficient CF in the presence of S466* variant in cis (PMID: 18951463 (2008), 22658665 (2012)). Published functional studies indicate that this variant affects chloride channel gating causing lower open probability of the channel and lower bicarbonate transport (PMID: 8662892 (1996), 11242048 (2001)). The frequency of this variant in the general population, 0.0047 (143/30596 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Based on the available information, this variant is classified as pathogenic. -
Pathogenic, criteria provided, single submitter	clinical testing	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	Apr 22, 2018	The c.3209G>A; p.Arg1070Gln variant (rs78769542) has been observed in the compound heterozygous state in patients diagnosed with cystic fibrosis with pancreatic insufficiency (see link to CFTR2 database), or mild and atypical CFTR-related disorders, such as chronic pancreatitis and congenital absence of vas deferens (Feldmann 2003, Krasnov 2008), but its effects in the homozygous state are unknown. It is reported as pathogenic or likely pathogenic by several laboratories in Clinvar (Variation ID: 35866) and is observed in the South Asian population at an overall frequency of 0.46% (141/ 30766 alleles, 3 homozygotes) in the Genome Aggregation Database. The arginine at codon 1070 is highly conserved and computational algorithms (PolyPhen-2, SIFT) predict that the variant has an impact on the protein. Functional characterization of the variant protein is inconclusive on the expression level of the mature protein (Cotten 1996, Seibert 1996, Sosnay 2013, Van Goor 2014), but indicates an observable decrease in anion transport activity (Choi 2001, Seibert 1996, Sosnay 2013, Van Goor 2014). Based on available information, the p.Arg1070Gln variant is classified as pathogenic, with a variable presentation of clinical phenotypes. References: Link to CFTR2 database: https://www.cftr2.org/ Choi J et al. Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis. Nature. 2001;410(6824):94-7. Cotten J et al. Effect of cystic fibrosis-associated mutations in the fourth intracellular loop of cystic fibrosis transmembrane conductance regulator. J Biol Chem. 1996;271(35):21279-84. Feldmann D et al. CFTR genotypes in patients with normal or borderline sweat chloride levels. Hum Mutat. 2003;22(4):340. Krasnov K et al. Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships. Hum Mutat. 2008;29(11):1364-72. Seibert F et al. Disease-associated mutations in the fourth cytoplasmic loop of cystic fibrosis transmembrane conductance regulator compromise biosynthetic processing and chloride channel activity. J Biol Chem. 1996;271(25):15139-45. Sosnay PR et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet. 2013;45(10):1160-7. Van Goor F et al. Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. J Cyst Fibros. 2014;13(1):29-36. -
Pathogenic, criteria provided, single submitter	clinical testing	Revvity Omics, Revvity	Jun 21, 2023	- -
Pathogenic, criteria provided, single submitter	clinical testing	CeGaT Center for Human Genetics Tuebingen	Oct 01, 2022	CFTR: PS3, PS4, PP4:Moderate, PP3 -
Pathogenic, criteria provided, single submitter	clinical testing	Eurofins Ntd Llc (ga)	Apr 28, 2015	- -

CFTR-related disorder

Pathogenic:2

Pathogenic, no assertion criteria provided	clinical testing	PreventionGenetics, part of Exact Sciences	Dec 05, 2023	The CFTR c.3209G>A variant is predicted to result in the amino acid substitution p.Arg1070Gln. This variant has been reported to be causative for cystic fibrosis (Mercier et al. 1993. PubMed ID: 7683628; Krasnov et al. 2008. PubMed ID: 18951463; Mickle et al. 2000. PubMed: 10762539; www.CFTR2.org). This variant is reported in 0.47% of alleles in individuals of South Asian descent in gnomAD. This variant is interpreted as pathogenic. -
Pathogenic, no assertion criteria provided	clinical testing	Genome Diagnostics Laboratory, The Hospital for Sick Children	Aug 29, 2019	- -

Obstructive azoospermia

Pathogenic:1

Pathogenic, criteria provided, single submitter

clinical testing

Institute of Reproductive Genetics, University of Münster

Mar 16, 2022

- -

Cystic fibrosis;C0403814:Congenital bilateral aplasia of vas deferens from CFTR mutation

Pathogenic:1

Pathogenic, criteria provided, single submitter

clinical testing

Baylor Genetics

- -

Cystic fibrosis;na:CFTR-related disorder

Pathogenic:1

Pathogenic, criteria provided, single submitter

curation

CFTR-France

Jul 03, 2015

when the variant is in trans with another CF-causing variation, can either result in CF or in a CFTR-RD -

Hereditary pancreatitis

Pathogenic:1

Pathogenic, criteria provided, single submitter

clinical testing

Neuberg Centre For Genomic Medicine, NCGM

May 20, 2023

The missense c.3209G>A (p.Arg1070Gln) variant in CFTR gene has been observed in multiple individuals affected with CFTR-related disorders (Feldmann et al., 2003, Frenţescu et al., 2008; Krasnov et al., 2008). Experimental studies showed that this variant cause relatively subtle channel defects with functional consequences of a lower open probability of the channel, lower cyclic AMP-stimulated iodide efflux, lower bicarbonate and anion transport (Seibert et al., 1996; Cotten et al., 1996; Krasnov et al., 2008; Sosnay et al., 2013). The p.Arg1070Gln variant is present with allele frequency of 0.06% in gnomAD Exomes. This variant has been submitted to the ClinVar database as Uncertain Significance / Likely Pathogenic / Pathogenic (multiple submissions). Computational evidence (Polyphen - Probably damaging, SIFT - Tolerated and MutationTaster - Disease causing) predicts conflicting evidence on protein structure and function for this variant. The reference amino acid of p.Arg1070Gln in CFTR is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Arg at position 1070 is changed to a Gln changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Pathogenic. -

Bronchiectasis with or without elevated sweat chloride 1

Pathogenic:1

Pathogenic, criteria provided, single submitter

clinical testing

Baylor Genetics

Mar 28, 2024

- -

ivacaftor response - Efficacy

Other:1

drug response, reviewed by expert panel

curation

PharmGKB

Mar 24, 2021

PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C9*3, HLA-B*57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance. Drug-variant association: Efficacy

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

AlphaMissense

Uncertain

0.40

BayesDel_addAF

Uncertain

0.084

BayesDel_noAF

Pathogenic

0.35

CADD

Pathogenic

DANN

Pathogenic

1.0

DEOGEN2

Uncertain

0.48

T;.;.;T;.

Eigen

Pathogenic

0.73

Eigen_PC

Pathogenic

0.77

FATHMM_MKL

Pathogenic

1.0

LIST_S2

Pathogenic

0.99

D;D;D;D;D

M_CAP

Pathogenic

0.50

MetaRNN

Benign

0.020

T;T;T;T;T

MetaSVM

Uncertain

0.45

MutationAssessor

Benign

0.99

L;.;.;.;.

MutationTaster

Benign

1.0

A;A

PrimateAI

Uncertain

0.77

PROVEAN

Benign

-0.14

N;.;.;N;.

REVEL

Pathogenic

0.70

Sift

Benign

0.42

T;.;.;T;.

Sift4G

Pathogenic

0.0

D;.;.;D;.

Polyphen

1.0

D;.;.;.;.

Vest4

0.87

MVP

0.99

MPC

0.0084

ClinPred

0.068

GERP RS

5.7

Varity_R

0.62

gMVP

0.95

Splicing

Name

Calibrated prediction

Score

Prediction

SpliceAI score (max)

0.010

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