NM_013382.7:c.1911T>G

Variant names:

Variant summary

Our verdict is Benign. The variant received -19 ACMG points: 0P and 19B. BP4_ModerateBP6_Very_StrongBP7BA1

The NM_013382.7(POMT2):c.1911T>G(p.Leu637Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.807 in 1,613,018 control chromosomes in the GnomAD database, including 526,421 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).

Frequency

Genomes: 𝑓 0.82 ( 51439 hom., cov: 33)

Exomes 𝑓: 0.81 ( 474982 hom. )

Consequence

POMT2
NM_013382.7 synonymous

Scores

Clinical Significance

Benign criteria provided, multiple submitters, no conflicts B:10

Conservation

PhyloP100: -0.748

Publications

21 publications found

Variant links:

Genes affected

POMT2 (HGNC:19743): (protein O-mannosyltransferase 2) The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS).[provided by RefSeq, Oct 2008]

POMT2 Gene-Disease associations (from GenCC):

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Inheritance: AR Classification: DEFINITIVE, STRONG Submitted by: G2P, Labcorp Genetics (formerly Invitae), Genomics England PanelApp
myopathy caused by variation in POMT2
Inheritance: AR Classification: DEFINITIVE Submitted by: ClinGen
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Inheritance: AR Classification: MODERATE Submitted by: Ambry Genetics
autosomal recessive limb-girdle muscular dystrophy type 2N
Inheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet
congenital muscular dystrophy with cerebellar involvement
Inheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet
congenital muscular dystrophy with intellectual disability
Inheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet
muscle-eye-brain disease
Inheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet
muscular dystrophy-dystroglycanopathy, type A
Inheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet

POMT2 links:

Genome browser will be placed here

ACMG classification

Classification was made for transcript

Our verdict: Benign. The variant received -19 ACMG points.

BP4

Computational evidence support a benign effect (REVEL=0.091).

BP6

Variant 14-77278850-A-C is Benign according to our data. Variant chr14-77278850-A-C is described in CliVar as Benign. Clinvar id is 166901.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr14-77278850-A-C is described in CliVar as Benign. Clinvar id is 166901.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr14-77278850-A-C is described in CliVar as Benign. Clinvar id is 166901.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr14-77278850-A-C is described in CliVar as Benign. Clinvar id is 166901.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr14-77278850-A-C is described in CliVar as Benign. Clinvar id is 166901.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr14-77278850-A-C is described in CliVar as Benign. Clinvar id is 166901.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr14-77278850-A-C is described in CliVar as Benign. Clinvar id is 166901.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr14-77278850-A-C is described in CliVar as Benign. Clinvar id is 166901.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr14-77278850-A-C is described in CliVar as Benign. Clinvar id is 166901.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr14-77278850-A-C is described in CliVar as Benign. Clinvar id is 166901.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr14-77278850-A-C is described in CliVar as Benign. Clinvar id is 166901.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr14-77278850-A-C is described in CliVar as Benign. Clinvar id is 166901.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.

BP7

Synonymous conserved (PhyloP=-0.748 with no splicing effect.

BA1

GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.929 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
POMT2	NM_013382.7 link	c.1911T>G	p.Leu637Leu	synonymous_variant	Exon 19 of 21	ENST00000261534.9	NP_037514.2	Q9UKY4-1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
POMT2	ENST00000261534.9 link	c.1911T>G	p.Leu637Leu	synonymous_variant	Exon 19 of 21	1	NM_013382.7	ENSP00000261534.4		Q9UKY4-1

Frequencies

GnomAD3 genomes

AF:

0.821

AC:

124889

AN:

152092

Hom.:

51399

Cov.:

show subpopulations

Gnomad AFR

AF:

0.838

Gnomad AMI

AF:

0.849

Gnomad AMR

AF:

0.761

Gnomad ASJ

AF:

0.831

Gnomad EAS

AF:

0.951

Gnomad SAS

AF:

0.785

Gnomad FIN

AF:

0.857

Gnomad MID

AF:

0.753

Gnomad NFE

AF:

0.811

Gnomad OTH

AF:

0.833

GnomAD2 exomes

AF:

0.815

AC:

203865

AN:

250248

AF XY:

0.814

show subpopulations

Gnomad AFR exome

AF:

0.842

Gnomad AMR exome

AF:

0.737

Gnomad ASJ exome

AF:

0.819

Gnomad EAS exome

AF:

0.964

Gnomad FIN exome

AF:

0.847

Gnomad NFE exome

AF:

0.814

Gnomad OTH exome

AF:

0.814

GnomAD4 exome

AF:

0.805

AC:

1176648

AN:

1460808

Hom.:

474982

Cov.:

AF XY:

0.805

AC XY:

584837

AN XY:

726742

show subpopulations

African (AFR)

AF:

0.844

AC:

28235

AN:

33460

American (AMR)

AF:

0.747

AC:

33376

AN:

44690

Ashkenazi Jewish (ASJ)

AF:

0.823

AC:

21511

AN:

26132

East Asian (EAS)

AF:

0.967

AC:

38376

AN:

39698

South Asian (SAS)

AF:

0.772

AC:

66545

AN:

86244

European-Finnish (FIN)

AF:

0.845

AC:

44635

AN:

52850

Middle Eastern (MID)

AF:

0.796

AC:

4590

AN:

5764

European-Non Finnish (NFE)

AF:

0.801

AC:

890377

AN:

1111610

Other (OTH)

AF:

0.812

AC:

49003

AN:

60360

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.480

Heterozygous variant carriers

15325

30650

45974

61299

76624

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

Age Distribution

Exome Het

Exome Hom

Variant carriers

20774

41548

62322

83096

103870

<30

30-35

35-40

40-45

45-50

50-55

55-60

60-65

65-70

70-75

75-80

>80

Age

GnomAD4 genome

AF:

0.821

AC:

124983

AN:

152210

Hom.:

51439

Cov.:

AF XY:

0.823

AC XY:

61244

AN XY:

74428

show subpopulations

African (AFR)

AF:

0.838

AC:

34798

AN:

41530

American (AMR)

AF:

0.760

AC:

11625

AN:

15292

Ashkenazi Jewish (ASJ)

AF:

0.831

AC:

2885

AN:

3472

East Asian (EAS)

AF:

0.951

AC:

4918

AN:

5170

South Asian (SAS)

AF:

0.785

AC:

3788

AN:

4828

European-Finnish (FIN)

AF:

0.857

AC:

9091

AN:

10612

Middle Eastern (MID)

AF:

0.752

AC:

221

AN:

294

European-Non Finnish (NFE)

AF:

0.811

AC:

55114

AN:

67984

Other (OTH)

AF:

0.836

AC:

1769

AN:

2116

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.507

Heterozygous variant carriers

1187

2375

3562

4750

5937

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

Age Distribution

Genome Het

Genome Hom

Variant carriers

882

1764

2646

3528

4410

<30

30-35

35-40

40-45

45-50

50-55

55-60

60-65

65-70

70-75

75-80

>80

Age

Alfa

AF:

0.812

Hom.:

42595

Bravo

AF:

0.816

Asia WGS

AF:

0.874

AC:

3042

AN:

3478

EpiCase

AF:

0.809

EpiControl

AF:

0.811

ClinVar

Significance: Benign

Submissions summary: Benign:10

Revision: criteria provided, multiple submitters, no conflicts

LINK: link

Submissions by phenotype

not specified

Benign:5

Jun 05, 2013

Eurofins Ntd Llc (ga)

Significance:Benign

Review Status:criteria provided, single submitter

Collection Method:clinical testing

- -

Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Significance:Benign

Review Status:no assertion criteria provided

Collection Method:clinical testing

- -

Clinical Genetics, Academic Medical Center

Significance:Benign

Review Status:no assertion criteria provided

Collection Method:clinical testing

- -

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

Significance:Benign

Review Status:no assertion criteria provided

Collection Method:clinical testing

- -

Nov 24, 2014

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Significance:Benign

Review Status:criteria provided, single submitter

Collection Method:clinical testing

Leu637Leu in exon 19 of POMT2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 19.0% (1637/8600) o f European American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs3209079). -

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2;C3150416:Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2;C3150418:Autosomal recessive limb-girdle muscular dystrophy type 2N

Benign:1

Feb 03, 2025

Labcorp Genetics (formerly Invitae), Labcorp

Significance:Benign

Review Status:criteria provided, single submitter

Collection Method:clinical testing

- -

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

Benign:1

Oct 25, 2021

Genome-Nilou Lab

Significance:Benign

Review Status:criteria provided, single submitter

Collection Method:clinical testing

- -

Autosomal recessive limb-girdle muscular dystrophy type 2N

Benign:1

Oct 25, 2021

Genome-Nilou Lab

Significance:Benign

Review Status:criteria provided, single submitter

Collection Method:clinical testing

- -

not provided

Benign:1

Breakthrough Genomics, Breakthrough Genomics

Significance:Benign

Review Status:criteria provided, single submitter

Collection Method:not provided

- -

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Benign:1

Oct 25, 2021

Genome-Nilou Lab

Significance:Benign

Review Status:criteria provided, single submitter

Collection Method:clinical testing

- -

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.79

CADD

Benign

5.7

(source)

DANN

Benign

0.55

PhyloP100

-0.75

RBP_binding_hub_radar

0.0

RBP_regulation_power_radar

1.7

Mutation Taster

=100/0

polymorphism (auto)

(source)

Splicing

Name

Calibrated prediction

Score

Prediction

SpliceAI score (max)

0.0

Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

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Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

Publications

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

Age Distribution

Age Distribution

ClinVar

Submissions by phenotype

Computational scores

Splicing

Publications

Other links and lift over