NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg) AND not specified

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Dec 31, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000245397.3

Allele description [Variation Report for NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg)]

NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg)

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.1543G>A (p.Gly515Arg)
HGVS:
  • NC_000015.10:g.42402800G>A
  • NG_008660.1:g.59698G>A
  • NM_000070.3:c.1543G>AMANE SELECT
  • NM_024344.1:c.1543G>A
  • NM_173087.1:c.1399G>A
  • NM_173088.1:c.7G>A
  • NP_000061.1:p.Gly515Arg
  • NP_077320.1:p.Gly515Arg
  • NP_775110.1:p.Gly467Arg
  • NP_775111.1:p.Gly3Arg
  • LRG_849t1:c.1543G>A
  • LRG_849:g.59698G>A
  • LRG_849p1:p.Gly515Arg
  • NC_000015.9:g.42694998G>A
  • NM_000070.2:c.1543G>A
Protein change:
G3R
Links:
dbSNP: rs150226817
NCBI 1000 Genomes Browser:
rs150226817
Molecular consequence:
  • NM_000070.3:c.1543G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024344.1:c.1543G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173087.1:c.1399G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173088.1:c.7G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000301870PreventionGenetics,PreventionGeneticscriteria provided, single submitter
Likely benigngermlineclinical testing

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

SCV000612636Athena Diagnostics Inccriteria provided, single submitter
Uncertain significance
(Dec 31, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

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

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From PreventionGenetics,PreventionGenetics, SCV000301870.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Athena Diagnostics Inc, SCV000612636.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 27, 2021

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