Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu)

Help
Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
11 (Most recent: Sep 23, 2021)
Last evaluated:
Dec 3, 2020
Accession:
VCV000095455.9
Variation ID:
95455
Description:
single nucleotide variant
Help

NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu)

Allele ID
101354
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.13
Genomic location
9: 131515483 (GRCh38) GRCh38 UCSC
9: 134390870 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
Q9Y6A1:p.Asp433Glu
LRG_842t2:c.1233C>A LRG_842p2:p.Asp411Glu
LRG_842t1:c.1299C>A LRG_842p1:p.Asp433Glu
... more HGVS
Protein change
D433E, D316E, D379E, D381E, D411E, D259E, D294E, D357E, D281E, D407E
Other names
p.D433E:GAC>GAA
Canonical SPDI
NC_000009.12:131515482:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.01258 (A)

Allele frequency
1000 Genomes Project 0.01258
Trans-Omics for Precision Medicine (TOPMed) 0.03360
The Genome Aggregation Database (gnomAD) 0.04069
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.03637
Links
ClinGen: CA148548
UniProtKB: Q9Y6A1#VAR_034392
dbSNP: rs11243406
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 7 criteria provided, multiple submitters, no conflicts Dec 21, 2013 RCV000081480.11
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000391550.2
Benign 1 criteria provided, single submitter Dec 3, 2020 RCV000560291.3
Benign 1 criteria provided, single submitter Apr 14, 2017 RCV000576701.1
Likely benign 1 no assertion criteria provided - RCV001701739.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
POMT1 - - GRCh38
GRCh37
561 599

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Apr 03, 2013)
criteria provided, single submitter
Method: clinical testing
AllHighlyPenetrant
(Autosomal recessive inheritance)
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000152350.1
Submitted: (Apr 30, 2014)
Evidence details
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000311729.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Apr 14, 2017)
criteria provided, single submitter
Method: clinical testing
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000677414.1
Submitted: (Jul 17, 2017)
Evidence details
Benign
(Dec 21, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000171149.11
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Apr 23, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000113411.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000477661.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Dec 03, 2020)
criteria provided, single submitter
Method: clinical testing
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1
Walker-Warburg congenital muscular dystrophy
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Allele origin: germline
Invitae
Accession: SCV000649871.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001740670.3
Submitted: (Sep 02, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001920464.1
Submitted: (Sep 23, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001967410.1
Submitted: (Sep 21, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001930301.1
Submitted: (Sep 23, 2021)
Evidence details

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=POMT1 - - - -

Text-mined citations for rs11243406...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 16, 2021