NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Apr 25, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000171232.1

Allele description [Variation Report for NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val)]

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

Gene:
CAPN3:calpain 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q15.1
Genomic location:
Preferred name:
NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val)
HGVS:
  • NC_000015.10:g.42410949A>G
  • NG_008660.1:g.67847A>G
  • NM_000070.3:c.2329A>GMANE SELECT
  • NM_024344.1:c.2311A>G
  • NM_173087.1:c.2053A>G
  • NM_173088.1:c.793A>G
  • NM_173089.1:c.334A>G
  • NM_173090.1:c.334A>G
  • NP_000061.1:p.Ile777Val
  • NP_077320.1:p.Ile771Val
  • NP_775110.1:p.Ile685Val
  • NP_775111.1:p.Ile265Val
  • NP_775112.1:p.Ile112Val
  • NP_775113.1:p.Ile112Val
  • LRG_849t1:c.2329A>G
  • LRG_849:g.67847A>G
  • LRG_849p1:p.Ile777Val
  • NC_000015.9:g.42703147A>G
  • NM_000070.2:c.2329A>G
Protein change:
I112V
Links:
dbSNP: rs149969786
NCBI 1000 Genomes Browser:
rs149969786
Molecular consequence:
  • NM_000070.3:c.2329A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024344.1:c.2311A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173087.1:c.2053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173088.1:c.793A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173089.1:c.334A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173090.1:c.334A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000221429Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centreno assertion criteria provided
Likely pathogenicgermlineresearch

PubMed (1)
[See all records that cite this PMID]

SCV000860850EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Apr 25, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre, SCV000221429.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000860850.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Aug 27, 2021

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