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NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Dec 28, 2020)
Last evaluated:
Jul 27, 2018
Accession:
VCV000191056.3
Variation ID:
191056
Description:
single nucleotide variant
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NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val)

Allele ID
188862
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q15.1
Genomic location
15: 42410949 (GRCh38) GRCh38 UCSC
15: 42703147 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.42410949A>G
NC_000015.9:g.42703147A>G
NM_000070.3:c.2329A>G MANE Select NP_000061.1:p.Ile777Val missense
... more HGVS
Protein change
I777V, I265V, I771V, I112V, I685V
Other names
-
Canonical SPDI
NC_000015.10:42410948:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (G)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD) 0.00010
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00012
1000 Genomes Project 0.00020
Links
ClinGen: CA235924
dbSNP: rs149969786
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 3 criteria provided, multiple submitters, no conflicts Jul 27, 2018 RCV000644992.4
Uncertain significance 2 criteria provided, single submitter Apr 25, 2018 RCV000171232.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CAPN3 - - GRCh38
GRCh37
999 1011

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 03, 2017)
criteria provided, single submitter
Method: clinical testing
Limb-girdle muscular dystrophy, type 2A
Allele origin: unknown
Counsyl
Accession: SCV000800486.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Apr 25, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000860850.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Jul 27, 2018)
criteria provided, single submitter
Method: clinical testing
Limb-girdle muscular dystrophy, type 2A
Allele origin: germline
Invitae
Accession: SCV000766728.2
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces isoleucine with valine at codon 777 of the CAPN3 protein (p.Ile777Val). The isoleucine residue is highly conserved and there is a … (more)
Likely pathogenic
(-)
no assertion criteria provided
Method: research
Not provided
Allele origin: germline
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre
Accession: SCV000221429.1
Submitted: (Apr 14, 2015)
Evidence details
Uncertain significance
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Limb-girdle muscular dystrophy type 2A
Allele origin: germline
Natera, Inc.
Accession: SCV001456377.1
Submitted: (Dec 28, 2020)
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
A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies. Monies D Human genomics 2016 PMID: 27671536
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CAPN3 - - - -

Text-mined citations for rs149969786...

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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 Aug 27, 2021