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NM_000070.3(CAPN3):c.495C>T (p.Phe165=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 5, 2020
Accession:
VCV000166785.5
Variation ID:
166785
Description:
single nucleotide variant
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NM_000070.3(CAPN3):c.495C>T (p.Phe165=)

Allele ID
177544
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q15.1
Genomic location
15: 42386282 (GRCh38) GRCh38 UCSC
15: 42678480 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_849:g.43180C>T
LRG_849t1:c.495C>T LRG_849p1:p.Phe165=
NC_000015.9:g.42678480C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:42386281:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00160 (T)

Allele frequency
1000 Genomes Project 0.00160
The Genome Aggregation Database (gnomAD) 0.00613
Trans-Omics for Precision Medicine (TOPMed) 0.00657
The Genome Aggregation Database (gnomAD), exomes 0.00585
Exome Aggregation Consortium (ExAC) 0.00627
The Genome Aggregation Database (gnomAD) 0.00605
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00661
Links
ClinGen: CA179836
dbSNP: rs1801324
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Sep 29, 2016 RCV000152919.6
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Dec 5, 2020 RCV000559703.6
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CAPN3 - - GRCh38
GRCh37
1035 1047

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000301889.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Sep 29, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000521445.4
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
(Jan 27, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000202347.7
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Limb-girdle muscular dystrophy, type 2A
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001274230.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Benign
(Dec 05, 2020)
criteria provided, single submitter
Method: clinical testing
Limb-girdle muscular dystrophy, type 2A
Allele origin: germline
Invitae
Accession: SCV000645503.5
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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CAPN3 - - - -

Text-mined citations for rs1801324...

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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 Nov 27, 2021