chr1-45331515-C-T

Variant names:

Variant summary

Our verdict is Uncertain significance. The variant received 1 ACMG points: 4P and 3B. PM1PM2BP4_ModerateBP6

The NM_001048174.2(MUTYH):c.1144G>A(p.Glu382Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000186 in 1,613,930 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/22 in silico tools predict a benign 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. E382D) has been classified as Uncertain significance.

Frequency

Genomes: 𝑓 0.000013 ( 0 hom., cov: 33)

Exomes 𝑓: 6.8e-7 ( 0 hom. )

Consequence

MUTYH
NM_001048174.2 missense

Scores

Clinical Significance

Uncertain significance criteria provided, multiple submitters, no conflicts U:3

Conservation

PhyloP100: 2.10

Publications

3 publications found

Variant links:

Genes affected

MUTYH (HGNC:7527): (mutY DNA glycosylase) This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. This gene product is thought to play a role in signaling apoptosis by the introduction of single-strand breaks following oxidative damage. Mutations in this gene result in heritable predisposition to colorectal cancer, termed MUTYH-associated polyposis (MAP). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]

MUTYH Gene-Disease associations (from GenCC):

familial adenomatous polyposis 2
Inheritance: AD, AR Classification: DEFINITIVE, STRONG, SUPPORTIVE Submitted by: Orphanet, Labcorp Genetics (formerly Invitae), Genomics England PanelApp, ClinGen, G2P
colorectal cancer
Inheritance: AD Classification: NO_KNOWN Submitted by: ClinGen
familial ovarian cancer
Inheritance: AD, AR Classification: NO_KNOWN Submitted by: ClinGen
hereditary breast carcinoma
Inheritance: AD, AR Classification: NO_KNOWN Submitted by: ClinGen

MUTYH links:

ENSG00000288208 (HGNC:):

ENSG00000288208 links:

Genome browser will be placed here

ACMG classification

Classification was made for transcript

Our verdict: Uncertain_significance. The variant received 1 ACMG points.

PM1

In a hotspot region, there are 4 aminoacids with missense pathogenic changes in the window of +-8 aminoacids around while only 12 benign, 49 uncertain in NM_001048174.2

PM2

Very rare variant in population databases, with high coverage;

BP4

Computational evidence support a benign effect (MetaRNN=0.17602009).

BP6

Variant 1-45331515-C-T is Benign according to our data. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747. Variant chr1-45331515-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 142747.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
MUTYH	NM_001048174.2 link	c.1144G>A	p.Glu382Lys	missense_variant	Exon 13 of 16	ENST00000456914.7	NP_001041639.1	Q9UIF7-6

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
MUTYH	ENST00000456914.7 link	c.1144G>A	p.Glu382Lys	missense_variant	Exon 13 of 16	1	NM_001048174.2	ENSP00000407590.2		Q9UIF7-6
ENSG00000288208	ENST00000671898.1 link	n.1732G>A		non_coding_transcript_exon_variant	Exon 17 of 21			ENSP00000499896.1		A0A5F9ZGZ0

Frequencies

GnomAD3 genomes

AF:

0.0000131

AC:

AN:

152154

Hom.:

Cov.:

show subpopulations

Gnomad AFR

AF:

0.00

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:

0.0000294

Gnomad OTH

AF:

0.00

GnomAD4 exome

AF:

6.84e-7

AC:

AN:

1461776

Hom.:

Cov.:

AF XY:

0.00000138

AC XY:

AN XY:

727178

show subpopulations

African (AFR)

AF:

0.00

AC:

AN:

33480

American (AMR)

AF:

0.00

AC:

AN:

44724

Ashkenazi Jewish (ASJ)

AF:

0.00

AC:

AN:

26136

East Asian (EAS)

AF:

0.00

AC:

AN:

39700

South Asian (SAS)

AF:

0.00

AC:

AN:

86258

European-Finnish (FIN)

AF:

0.00

AC:

AN:

53318

Middle Eastern (MID)

AF:

0.00

AC:

AN:

5762

European-Non Finnish (NFE)

AF:

8.99e-7

AC:

AN:

1112006

Other (OTH)

AF:

0.00

AC:

AN:

60392

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.575

Heterozygous variant carriers

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

GnomAD4 genome

AF:

0.0000131

AC:

AN:

152154

Hom.:

Cov.:

AF XY:

0.0000135

AC XY:

AN XY:

74324

show subpopulations

African (AFR)

AF:

0.00

AC:

AN:

41458

American (AMR)

AF:

0.00

AC:

AN:

15230

Ashkenazi Jewish (ASJ)

AF:

0.00

AC:

AN:

3472

East Asian (EAS)

AF:

0.00

AC:

AN:

5196

South Asian (SAS)

AF:

0.00

AC:

AN:

4834

European-Finnish (FIN)

AF:

0.00

AC:

AN:

10624

Middle Eastern (MID)

AF:

0.00

AC:

AN:

316

European-Non Finnish (NFE)

AF:

0.0000294

AC:

AN:

68020

Other (OTH)

AF:

0.00

AC:

AN:

2092

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.475

Heterozygous variant carriers

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

Alfa

AF:

0.0000393

Hom.:

Bravo

AF:

0.00000756

ClinVar

Significance: Uncertain significance

Submissions summary: Uncertain:3

Revision: criteria provided, multiple submitters, no conflicts

LINK: link

Submissions by phenotype

Hereditary cancer-predisposing syndrome

Uncertain:2

Mar 11, 2024

Color Diagnostics, LLC DBA Color Health

Significance:Uncertain significance

Review Status:criteria provided, single submitter

Collection Method:clinical testing

This missense variant replaces glutamic acid with lysine at codon 410 of the MUTYH protein. Computational prediction suggests that this variant may not impact protein structure and function. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MUTYH-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. -

Aug 07, 2024

Ambry Genetics

Significance:Uncertain significance

Review Status:criteria provided, single submitter

Collection Method:clinical testing

The p.E410K variant (also known as c.1228G>A), located in coding exon 13 of the MUTYH gene, results from a G to A substitution at nucleotide position 1228. The glutamic acid at codon 410 is replaced by lysine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. -

Familial adenomatous polyposis 2

Uncertain:1

Apr 15, 2024

Labcorp Genetics (formerly Invitae), Labcorp

Significance:Uncertain significance

Review Status:criteria provided, single submitter

Collection Method:clinical testing

This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 410 of the MUTYH protein (p.Glu410Lys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. ClinVar contains an entry for this variant (Variation ID: 142747). 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 tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

AlphaMissense

Benign

0.091

BayesDel_addAF

Uncertain

0.043

BayesDel_noAF

Benign

-0.18

CADD

Benign

(source)

DANN

Uncertain

0.98

DEOGEN2

Benign

0.39

.;.;.;.;.;.;T;.;.;.;.;T

Eigen

Benign

-0.66

Eigen_PC

Benign

-0.71

FATHMM_MKL

Benign

0.47

LIST_S2

Benign

0.78

.;.;T;.;T;T;T;T;T;T;T;T

M_CAP

Uncertain

0.16

MetaRNN

Benign

0.18

T;T;T;T;T;T;T;T;T;T;T;T

MetaSVM

Uncertain

0.035

MutationAssessor

Uncertain

2.8

.;.;.;.;.;.;M;.;.;.;.;.

PhyloP100

2.1

PrimateAI

Benign

0.37

PROVEAN

Benign

-1.9

N;N;N;N;N;N;N;N;N;N;N;.

REVEL

Benign

0.27

Sift

Benign

0.031

D;T;T;T;T;T;T;T;T;D;T;.

Sift4G

Uncertain

0.031

D;T;T;T;T;T;T;T;T;D;T;T

Polyphen

0.0050, 0.031, 0.018

.;.;.;.;.;.;B;B;.;.;B;.

Vest4

0.33

MutPred

0.45

.;.;.;.;.;.;.;.;.;.;Gain of methylation at E410 (P = 0.0145);.;

MVP

0.87

MPC

0.20

ClinPred

0.70

GERP RS

1.2

RBP_binding_hub_radar

0.0

RBP_regulation_power_radar

1.7

Varity_R

0.20

gMVP

0.56

Mutation Taster

=81/19

polymorphism

(source)

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

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Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

Publications

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

ClinVar

Submissions by phenotype

Computational scores

Splicing

Publications

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