NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln) AND Muscular dystrophy, limb-girdle, autosomal dominant 4

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Oct 7, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001198825.5

Allele description [Variation Report for NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)]

NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)

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.1715G>A (p.Arg572Gln)

HGVS:

NC_000015.10:g.42402972G>A
NG_008660.1:g.59870G>A
NM_000070.3:c.1715G>AMANE SELECT
NM_024344.2:c.1715G>A
NM_173087.2:c.1571G>A
NM_173088.2:c.179G>A
NP_000061.1:p.Arg572Gln
NP_077320.1:p.Arg572Gln
NP_775110.1:p.Arg524Gln
NP_775111.1:p.Arg60Gln
LRG_849t1:c.1715G>A
LRG_849:g.59870G>A
LRG_849p1:p.Arg572Gln
NC_000015.9:g.42695170G>A
NM_000070.2:c.1715G>A
P20807:p.Arg572Gln

Protein change:

R524Q; ARG572GLN

Links:

UniProtKB: P20807#VAR_001368; OMIM: 114240.0002; dbSNP: rs121434544

NCBI 1000 Genomes Browser:

rs121434544

Molecular consequence:

NM_000070.3:c.1715G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_024344.2:c.1715G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_173087.2:c.1571G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_173088.2:c.179G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Muscular dystrophy, limb-girdle, autosomal dominant 4
Synonyms:: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1I
Identifiers:: MONDO: MONDO:0029133; MedGen: C4748295; OMIM: 618129

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001369820	Centre for Mendelian Genomics, University Medical Centre Ljubljana	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 24, 2020)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004211543	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 7, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001369820

Centre for Mendelian Genomics, University Medical Centre Ljubljana

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 24, 2020)

unknown

clinical testing

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

SCV004211543

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 7, 2023)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

Details of each submission

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV001369820.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS3,PS4,PM2,PM3,PP3,PP4.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Baylor Genetics, SCV004211543.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 16, 2024

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