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NM_001077365.2(POMT1):c.*226T>C

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jul 15, 2021)
Last evaluated:
Jun 14, 2018
Accession:
VCV000288427.4
Variation ID:
288427
Description:
single nucleotide variant
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NM_001077365.2(POMT1):c.*226T>C

Allele ID
272664
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.13
Genomic location
9: 131523332 (GRCh38) GRCh38 UCSC
9: 134398719 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.134398719T>C
NC_000009.12:g.131523332T>C
NG_008896.1:g.25431T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:131523331:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.12919 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.89498
1000 Genomes Project 0.87081
Trans-Omics for Precision Medicine (TOPMed) 0.87694
Links
ClinGen: CA10606083
dbSNP: rs3824395
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000307484.2
Benign 1 criteria provided, single submitter Jun 15, 2016 RCV000343623.1
Benign 1 criteria provided, single submitter Jun 14, 2018 RCV001534855.2
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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
Benign
(Jun 15, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000342533.4
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: SCV000477685.3
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
(Jun 14, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001751821.1
Submitted: (Jul 15, 2021)
Evidence details

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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=POMT1 - - - -

Text-mined citations for rs3824395...

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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 Sep 23, 2021