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NM_001077365.2(POMT1):c.2044dup (p.Ala682fs)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
May 26, 2009
Accession:
VCV000003240.1
Variation ID:
3240
Description:
1bp duplication
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NM_001077365.2(POMT1):c.2044dup (p.Ala682fs)

Allele ID
18279
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
9q34.13
Genomic location
9: 131522970-131522971 (GRCh38) GRCh38 UCSC
9: 134398357-134398358 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.134398359dup
NC_000009.12:g.131522972dup
NM_001077365.2:c.2044dup MANE Select NP_001070833.1:p.Ala682fs frameshift
... more HGVS
Protein change
A530fs, A609fs, A682fs, A552fs, A678fs, A587fs, A628fs, A652fs, A565fs, A650fs, A704fs
Other names
-
Canonical SPDI
NC_000009.12:131522970:GG:GGG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA278044
OMIM: 607423.0003
dbSNP: rs587777817
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided May 26, 2009 RCV000003396.6
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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

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 26, 2009)
no assertion criteria provided
Method: literature only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH EYE AND BRAIN ANOMALIES), TYPE A, 1
Allele origin: germline
OMIM
Accession: SCV000023554.4
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (3)

Functional evidence

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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

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Title Author Journal Year Link
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Mercuri E Neurology 2009 PMID: 19299310
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study. Messina S Neuromuscular disorders : NMD 2008 PMID: 18513969
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Beltrán-Valero de Bernabé D American journal of human genetics 2002 PMID: 12369018

Text-mined citations for rs587777817...

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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 Feb 03, 2021