NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) AND See cases

Clinical significance:Pathogenic (Last evaluated: Apr 26, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001420333.1

Allele description [Variation Report for NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp)]

NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp)

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.2305C>T (p.Arg769Trp)
HGVS:
  • NC_000015.10:g.42410925C>T
  • NG_008660.1:g.67823C>T
  • NM_000070.3:c.2305C>TMANE SELECT
  • NM_024344.1:c.2287C>T
  • NM_173087.1:c.2029C>T
  • NM_173088.1:c.769C>T
  • NM_173089.1:c.310C>T
  • NM_173090.1:c.310C>T
  • NP_000061.1:p.Arg769Trp
  • NP_077320.1:p.Arg763Trp
  • NP_775110.1:p.Arg677Trp
  • NP_775111.1:p.Arg257Trp
  • NP_775112.1:p.Arg104Trp
  • NP_775113.1:p.Arg104Trp
  • LRG_849t1:c.2305C>T
  • LRG_849:g.67823C>T
  • LRG_849p1:p.Arg769Trp
  • NC_000015.9:g.42703123C>T
  • NM_000070.2:c.2305C>T
Protein change:
R104W
Links:
dbSNP: rs868791726
NCBI 1000 Genomes Browser:
rs868791726
Molecular consequence:
  • NM_000070.3:c.2305C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024344.1:c.2287C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173087.1:c.2029C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173088.1:c.769C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173089.1:c.310C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173090.1:c.310C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001622753Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Taulicriteria provided, single submitter
Pathogenic
(Apr 26, 2021)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli, SCV001622753.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

PP5_strong;PM1_moderate;PM2_supporting;PM3_moderate;PM5_moderate;PP3_supporting;BP1_supporting

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 27, 2021

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