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NM_001077365.2(POMT1):c.1047= (p.Asp349=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 3, 2020
Accession:
VCV000471371.4
Variation ID:
471371
Description:
single nucleotide variant
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NM_001077365.2(POMT1):c.1047= (p.Asp349=)

Allele ID
458925
Variant type
single nucleotide variant
Variant length
-
Cytogenetic location
9q34.13
Genomic location
9: 131512101 (GRCh38) GRCh38 UCSC
9: 134387488 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.134387488=
NC_000009.12:g.131512101=
NM_001077365.2:c.1047= MANE Select NP_001070833.1:p.Asp349=
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:131512100:T:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.12919 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.07620
Trans-Omics for Precision Medicine (TOPMed) 0.12267
The Genome Aggregation Database (gnomAD) 0.10491
1000 Genomes Project 0.12919
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.11948
Exome Aggregation Consortium (ExAC) 0.07681
Links
ClinGen: CA658657915
dbSNP: rs3739494
VarSome
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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
(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: SCV000677412.1
Submitted: (Jul 17, 2017)
Evidence details
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: SCV000649864.5
Submitted: (Jan 07, 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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs3739494...

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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 Jun 14, 2021