rs137854523

Variant names:

• chr11-22236206-G-T
• rs137854523
• NM_213599.3:c.692G>T

Variant summary

Our verdict is Likely pathogenic. The variant received 6 ACMG points: 8P and 2B. PP5_Very_Strong BP4 BS2_Supporting

The NM_213599.3(ANO5):​c.692G>T​(p.Gly231Val) variant causes a missense change. The variant allele was found at a frequency of 0.00132 in 1,613,328 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely pathogenic (★★).

• Frequency:
  • Genomes: 𝑓 0.00097 (0 hom., cov: 32)
  • Exomes 𝑓: 0.0014 (4 hom.)
• Consequence: ANO5 NM_213599.3 missense
• Clinical Significance: Pathogenic/Likely pathogenic criteria provided, multiple submitters, no conflicts P:26 O:2
• Conservation: PhyloP100: 5.82
• Publications: 29 publications found

Genes affected

ANO5 (HGNC:27337): (anoctamin 5) This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]

ANO5 Gene-Disease associations (from GenCC):

• autosomal recessive limb-girdle muscular dystrophy

  Inheritance: AR Classification: DEFINITIVE Submitted by: ClinGen
• gnathodiaphyseal dysplasia

  Inheritance: AD Classification: STRONG, MODERATE, SUPPORTIVE Submitted by: Orphanet, Labcorp Genetics (formerly Invitae), G2P
• autosomal recessive limb-girdle muscular dystrophy type 2L

  Inheritance: AR Classification: STRONG, SUPPORTIVE, LIMITED Submitted by: Orphanet, Labcorp Genetics (formerly Invitae), G2P
• Miyoshi muscular dystrophy 3

  Inheritance: AR Classification: STRONG Submitted by: Labcorp Genetics (formerly Invitae)

ACMG classification

Our verdict: Likely_pathogenic. The variant received 6 ACMG points.

• PP5: Variant 11-22236206-G-T is Pathogenic according to our data. Variant chr11-22236206-G-T is described in ClinVar as Pathogenic/Likely_pathogenic. ClinVar VariationId is 2165.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
• BP4: Computational evidence support a benign effect (MetaRNN=0.07639387). . Strength limited to SUPPORTING due to the PP5.
• BS2: High Homozygotes in GnomAdExome4 at 4 AR,AD geneVariant has number of homozygotes lower than other variant known as pathogenic in the gene, so the strength is limited to Supporting.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
ANO5	NM_213599.3	c.692G>T	p.Gly231Val	missense_variant	Exon 8 of 22	ENST00000324559.9	NP_998764.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ANO5	ENST00000324559.9	c.692G>T	p.Gly231Val	missense_variant	Exon 8 of 22	1	NM_213599.3	ENSP00000315371.9

Frequencies

GnomAD3 genomes AF: 0.000973 AC: 148 AN: 152106 Hom.: 0 Cov.: 32

Gnomad AFR AF: 0.000169

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00249

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.000283

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.00146

Gnomad OTH AF: 0.000479

GnomAD2 exomes AF: 0.00103 AC: 258 AN: 250958 AF XY: 0.000907

Gnomad AFR exome AF: 0.000185

Gnomad AMR exome AF: 0.00275

Gnomad ASJ exome AF: 0.000298

Gnomad EAS exome AF: 0.00

Gnomad FIN exome AF: 0.0000463

Gnomad NFE exome AF: 0.00123

Gnomad OTH exome AF: 0.00262

GnomAD4 exome AF: 0.00135 AC: 1979 AN: 1461104 Hom.: 4 Cov.: 30 AF XY: 0.00125 AC XY: 911 AN XY: 726886

African (AFR) AF: 0.000209 AC: 7 AN: 33442

American (AMR) AF: 0.00269 AC: 120 AN: 44684

Ashkenazi Jewish (ASJ) AF: 0.000536 AC: 14 AN: 26114

East Asian (EAS) AF: 0.00 AC: 0 AN: 39572

South Asian (SAS) AF: 0.0000116 AC: 1 AN: 86240

European-Finnish (FIN) AF: 0.0000937 AC: 5 AN: 53386

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 5760

European-Non Finnish (NFE) AF: 0.00158 AC: 1756 AN: 1111554

Other (OTH) AF: 0.00126 AC: 76 AN: 60352

GnomAD4 genome AF: 0.000972 AC: 148 AN: 152224 Hom.: 0 Cov.: 32 AF XY: 0.000820 AC XY: 61 AN XY: 74434

African (AFR) AF: 0.000168 AC: 7 AN: 41550

American (AMR) AF: 0.00249 AC: 38 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 3466

East Asian (EAS) AF: 0.00 AC: 0 AN: 5178

South Asian (SAS) AF: 0.00 AC: 0 AN: 4830

European-Finnish (FIN) AF: 0.000283 AC: 3 AN: 10614

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 294

European-Non Finnish (NFE) AF: 0.00146 AC: 99 AN: 67992

Other (OTH) AF: 0.000474 AC: 1 AN: 2108

Alfa AF: 0.00110 Hom.: 1

Bravo AF: 0.00116

TwinsUK AF: 0.00162 AC: 6

ALSPAC AF: 0.00259 AC: 10

ESP6500AA AF: 0.000227 AC: 1

ESP6500EA AF: 0.00116 AC: 10

ExAC AF: 0.00105 AC: 128

EpiCase AF: 0.00153

EpiControl AF: 0.000771

ClinVar

Significance: Pathogenic/Likely pathogenic

Submissions summary: Pathogenic:26 Other:2

Revision: criteria provided, multiple submitters, no conflicts

Submissions by phenotype

not provided Pathogenic:11 Other:1

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ANO5 @LOVD

Significance: not provided

Review Status: no classification provided

Collection Method: literature only

- -

Dec 22, 2023

Revvity Omics, Revvity

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

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-

Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Significance: Pathogenic

Review Status: no assertion criteria provided

Collection Method: clinical testing

- -

-

Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Significance: Likely pathogenic

Review Status: no assertion criteria provided

Collection Method: clinical testing

- -

-

Genome Diagnostics Laboratory, Amsterdam University Medical Center

Significance: Likely pathogenic

Review Status: no assertion criteria provided

Collection Method: clinical testing

- -

Mar 21, 2023

Athena Diagnostics

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in multiple unrelated individuals with clinical features associated with limb girdle muscular dystrophy. In multiple individuals, this variant has been seen with a single recessive pathogenic variant in the same gene, suggesting this variant may also be pathogenic. Computational tools predict that this variant is damaging. -

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Department of Pathology and Laboratory Medicine, Sinai Health System

Significance: Pathogenic

Review Status: no assertion criteria provided

Collection Method: clinical testing

The ANO5 p.G231V variant was identified as a compound heterozygous or homozygous variant in 17 of 1650 proband chromosomes (frequency: 0.01) from individuals with limb-girdle muscular dystrophy, hyperCKemia or mild dystrophic changes (Savarese_2015_PMID:25891276; Silva_2019_PMID:31353849; Bolduc_2010_PMID:20096397). The variant was identified in dbSNP (ID: rs137854523) and ClinVar (classified as pathogenic by GeneDx, Laboratory for Molecular Medicine and four other laboratories, and as likely pathogenic by Invitae and NeuroMeGen, Hospital Clinico Santiago de Compostela). The variant was identified in control databases in 274 of 282336 chromosomes (1 homozygous) at a frequency of 0.0009705 increasing the likelihood this could be a low frequency benign variant (Genome Aggregation Database March 6, 2019, v2.1.1). The variant was observed in the following populations: Latino in 95 of 35372 chromosomes (freq: 0.002686), Other in 17 of 7204 chromosomes (freq: 0.00236), European (non-Finnish) in 152 of 128838 chromosomes (freq: 0.00118), Ashkenazi Jewish in 3 of 10360 chromosomes (freq: 0.00029), African in 5 of 24968 chromosomes (freq: 0.0002) and European (Finnish) in 2 of 25092 chromosomes (freq: 0.00008), but was not observed in the East Asian or South Asian populations. The p.Gly231 residue is conserved in mammals but not in more distantly related organisms, and four out of five computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) suggest that the variant may impact the protein; however, this information is not predictive enough to assume pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information this variant meets our laboratory’s criteria to be classified as pathogenic. -

Jul 29, 2016

Eurofins Ntd Llc (ga)

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

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Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)

Significance: Pathogenic

Review Status: no assertion criteria provided

Collection Method: clinical testing

- -

Jun 01, 2025

CeGaT Center for Human Genetics Tuebingen

Significance: Likely pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

ANO5: PM3:Very Strong, PM2:Supporting, BP4 -

Nov 02, 2023

Mayo Clinic Laboratories, Mayo Clinic

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

PM3_strong, PS4 -

Feb 12, 2025

GeneDx

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

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: 23193613, 22402862, 23670307, 26810512, 30564623, 30919934, 23047743, 22742934, 23041008, 25891276, 22980763, 20096397, 28489263, 31353849, 31931849, 34426522, 31589614, 34008892, 32403337, 35239206, 31980526, 32528171, 32399982, 33879512, 36913258, 23663589, 32367299, 32925086, 28176803, 23606453) -

Autosomal recessive limb-girdle muscular dystrophy type 2L Pathogenic:8 Other:1

Jun 11, 2020

Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease for this gene. (N) 0108 - This gene is known to be associated with both recessive and dominant disease. Both dominant and recessive condition have been reported in this gene with no clear genotype and phenotype correlation (PMID: 25891276, PMID: 28176803). (N) 0200 - Variant is predicted to result in a missense amino acid change from a glycine to a valine (exon 8 of 22). (N) 0251 - Variant is heterozygous. (N) 0304 - Variant is present in gnomAD <0.01 for a recessive condition (272 heterozygotes, 0 homozygotes). (P) 0501 - Missense variant is highly conserved with a major amino acid change. (P) 0600 - Variant is located in an annotated domain or motif (dimerisation domain of Ca+-activated chloride-channel, anoctamin; PDB, NBI). (N) 0705 - No comparable variants have previous evidence for pathogenicity. (N) 0801 - Strong previous evidence of pathogenicity in unrelated individuals. The variant has been previously reported in multiple patients with ANO5-related myopathy, in a homozygous state or compound heterozygous with another variant (ClinVar, PMID: 31353849) (P) 1208 - Inheritance information for this variant is not currently available. (N) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign -

Oct 08, 2018

NeuroMeGen, Hospital Clinico Santiago de Compostela

Significance: Likely pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Jul 15, 2022

MGZ Medical Genetics Center

Significance: Likely pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

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GeneReviews

Significance: not provided

Review Status: no classification provided

Collection Method: literature only

- -

Dec 12, 2022

Mendelics

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Feb 12, 2010

OMIM

Significance: Pathogenic

Review Status: no assertion criteria provided

Collection Method: literature only

- -

Jan 03, 2022

3billion

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000002165, PS1_S). The variant has been reported to be in trans with a pathogenic variant as either compound heterozygous or homozygous in at least 2 similarly affected unrelated individuals(PMID: 25891276, 22402862, 23606453, 22980763, PM3_S). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000970, PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. -

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Neuberg Centre For Genomic Medicine, NCGM

Significance: Likely pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Feb 16, 2024

Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center

Significance: Likely pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This sequence variant is a single nucleotide substitution (G>T) at position 692 of the coding sequence of the ANO5 gene that results in a glycine to valine amino acid change at residue 231 of the anoctamin 5 protein. This is a previously reported variant (ClinVar 2165) that has been observed in homozygous or compound heterozygous state in many individuals and families affected by limb girdle muscular dystrophy and ANO5-related muscular disorders (PMID: 32367299, 31353849, 25891276, 23606453, 20096397, 22402862, 23041008, 22980763, 23663589, 23670307, 26810512, 30919934, 31931849, 32403337, 32528171). This variant is present in 2127 of 1613328 alleles (0.1318%) in the gnomAD v4.0.0 population dataset. Multiple bioinformatic tools predict that this amino acid change would be damaging, and the Gly231 residue at this position is highly conserved across the vertebrate species examined. Studies examining the functional consequence of this variant have not been published, to our knowledge. Based upon the evidence, we consider this variant to be likely pathogenic. ACMG Criteria: PP3, PS4 -

ANO5-related disorder Pathogenic:2

Jun 05, 2024

PreventionGenetics, part of Exact Sciences

Significance: Pathogenic

Review Status: no assertion criteria provided

Collection Method: clinical testing

The ANO5 c.692G>T variant is predicted to result in the amino acid substitution p.Gly231Val. This variant has been reported in several unrelated individuals to be causative for limb girdle muscular dystrophy 2L (Bolduc et al. 2010. PubMed ID: 20096397; Wahbi et al. 2013. PubMed ID: 23041008; Savarese et al. 2015. PubMed ID: 25891276). In addition, we have seen this variant in the homozygous and compound heterozygous state in other patients at PreventionGenetics with muscular dystrophy. This variant is reported in 0.27% of alleles in individuals of Latino descent in gnomAD. In summary, we categorize the c.692G>T variant as pathogenic for autosomal recessive ANO5-related disorders. -

Apr 27, 2017

Illumina Laboratory Services, Illumina

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

The ANO5 c.692G>T (p.Gly231Val) missense variant has been reported in five studies in which it is found in a total of nine individuals with ANO5-Related Disorders, including in one individual in a homozygous state, in six individuals in a compound heterozygous state (including two siblings), in one individual in a heterozygous state in whom a second variant was not found, and in one individual in a heterozygous state as part of a complex allele with another missense variant (Bolduc et al. 2010; Wahbi et al. 2013; Penttilä et al. 2012; Sarkozy et al. 2012; Savarese et al. 2015). The p.Gly231Val variant was absent from 210 control chromosomes, but is reported at a frequency of 0.00402 in the Latino population of the Exome Aggregation Consortium. The Gly231 residue is conserved. Based on the collective evidence the p.Gly231Val variant is classified as pathogenic for ANO5-Related Disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. -

Miyoshi muscular dystrophy 3 Pathogenic:1

Mar 30, 2023

Molecular Genetics, Royal Melbourne Hospital

Significance: Likely pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This sequence change in ANO5 is predicted to replace glycine with valine at codon 231, p.(Gly231Val). The glycine residue is moderately conserved (100 vertebrates, UCSC), and is located in a cytoplasmic domain. There is a large physicochemical difference between glycine and valine. The highest population minor allele frequency in gnomAD v2.1 is 0.3% (95/35,372 alleles, 1 homozygote) in the Latino/admixed American population. This variant has been detected as homozygous or compound heterozygous with a second pathogenic allele in multiple individuals with limb-girdle muscular dystrophy, hyperCKaemia, and pseudo-metabolic myopathy phenotypes. The variants were confirmed in trans by parental testing in at least one of the compound heterozygous individuals (PMID: 20096397, 31353849). Multiple lines of computational evidence have conflicting predictions for the missense substitution (4/6 algorithms predict deleterious). Based on the classification scheme RMH Modified ACMG Guidelines v1.5.1, this variant is classified as LIKELY PATHOGENIC. Following criteria are met: PM3_VeryStrong. -

Autosomal recessive limb-girdle muscular dystrophy Pathogenic:1

Feb 07, 2024

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

Variant summary: ANO5 c.692G>T (p.Gly231Val) results in a non-conservative amino acid change located in the Anoctamin, dimerisation domain (IPR032394) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.001 in 250958 control chromosomes in the gnomAD database, including 1 homozygotes. This frequency is not significantly higher than estimated for a pathogenic variant in ANO5 causing Limb-Girdle Muscular Dystrophy, Autosomal Recessive (0.001 vs 0.0047), allowing no conclusion about variant significance. c.692G>T has been reported in the literature in multiple bi-allelic individuals affected with muscular dystrophy type 2 (LGMD2), Miyoshi-like muscle dystrophy, and hyperCKemia (examples: Bolduc_2010, Wahbi_2013, Savarese_2015, TenDam_2019, and Gonzalez-Quereda_2020). These data indicate that the variant is very likely to be associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 20096397, 23041008, 30919934, 32403337, 25891276). ClinVar contains an entry for this variant (Variation ID: 2165). Based on the evidence outlined above, the variant was classified as pathogenic. -

Hereditary fructosuria Pathogenic:1

Aug 30, 2018

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

The p.Gly231Val variant in ANO5 has been previously reported in at least 15 comp ound heterozygous and 1 homozygous individuals with ANO5-related muscle diseases , ranging from asymptomatic hyperCKemia to limb-girdle muscular dystrophy type 2L (LGMD2L) or Miyoshi muscular dystrophy, and segregated with disease in one co mpound heterozygous sibling. Three of these individuals were female and presente d with asymptomatic hyperCKemia (Bolduc 2010, Wahbi 2013, Savarese 2015, Penttil a 2012, Witting 2013, Liewluck 2013, Sarkozy 2013). Typically, females have mil der disease manifestations than males (Bolduc 2010, Penttila 2012). This variant has also been reported in ClinVar (Variation ID 2165) and identified in 0.113% (143/126350) of European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org). Although this variant has been seen in the g eneral population, its frequency is low enough to be consistent with the disease prevalence. Computational prediction tools and conservation analysis suggest th at the p.Gly231Val variant may impact the protein. In summary, this variant meet s criteria to be classified as pathogenic for ANO5-related muscle diseases in an autosomal recessive manner based upon proband count. ACMG/AMP Criteria applied: PP3, PP1, PM3_Very Strong. -

Gnathodiaphyseal dysplasia;C1969785:Autosomal recessive limb-girdle muscular dystrophy type 2L;C2750076:Miyoshi muscular dystrophy 3 Pathogenic:1

Oct 31, 2018

Fulgent Genetics, Fulgent Genetics

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

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Gnathodiaphyseal dysplasia;C1969785:Autosomal recessive limb-girdle muscular dystrophy type 2L Pathogenic:1

Jan 29, 2025

Labcorp Genetics (formerly Invitae), Labcorp

Significance: Likely pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 231 of the ANO5 protein (p.Gly231Val). This variant is present in population databases (rs137854523, gnomAD 0.2%), including at least one homozygous and/or hemizygous individual. This missense change has been observed in individual(s) with autosomal recessive limb-girdle muscular dystrophy type 2 (LGMD2), Miyoshi-like muscle dystrophy, and hyperCKemia (PMID: 20096397, 22402862, 22980763, 23041008, 23606453, 23670307, 25891276, 26810512, 32646536). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 2165). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt ANO5 protein function with a positive predictive value of 95%. 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. -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
AlphaMissense	Uncertain	0.51
BayesDel_addAF	Benign	-0.13	T
BayesDel_noAF	Uncertain	0.030
CADD	Pathogenic	26
DANN	Uncertain	1.0
DEOGEN2	Benign	0.36	T
Eigen	Pathogenic	0.77
Eigen_PC	Pathogenic	0.77
FATHMM_MKL	Pathogenic	0.97	D
LIST_S2	Uncertain	0.89	D
M_CAP	Benign	0.078	D
MetaRNN	Benign	0.076	T
MetaSVM	Benign	-0.29	T
MutationAssessor	Pathogenic	3.0	M
PhyloP100		5.8
PrimateAI	Benign	0.42	T
PROVEAN	Pathogenic	-5.3	D
REVEL	Uncertain	0.49
Sift	Benign	0.070	T
Sift4G	Uncertain	0.051	T
Polyphen		1.0	D
Vest4		0.81
MVP		0.91
MPC		0.52
ClinPred		0.092	T
GERP RS		5.8
Varity_R		0.75
gMVP		0.67
Mutation Taster		=67/33	disease causing (ClinVar)

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

Other links and lift over

dbSNP: rs137854523; hg19: chr11-22257752;