NM_000070.3(CAPN3):c.550del (p.Thr184fs) AND Muscular dystrophy, limb-girdle, autosomal dominant 4

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 26, 2024
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:: RCV001197255.8

Allele description [Variation Report for NM_000070.3(CAPN3):c.550del (p.Thr184fs)]

NM_000070.3(CAPN3):c.550del (p.Thr184fs)

Gene:

CAPN3:calpain 3 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

15q15.1

Genomic location:

Preferred name:

NM_000070.3(CAPN3):c.550del (p.Thr184fs)

Other names:

NM_000070.2:c.550del;p.Thr184Argfs*36

HGVS:

NC_000015.10:g.42387804del
NG_008660.1:g.44702del
NM_000070.3:c.550delMANE SELECT
NM_000070.3:c.550delA
NM_024344.2:c.550del
NM_173087.2:c.550del
NP_000061.1:p.Thr184fs
NP_077320.1:p.Thr184fs
NP_077320.1:p.Thr184fs
NP_775110.1:p.Thr184fs
LRG_849t1:c.550del
LRG_849:g.44702del
LRG_849p1:p.Thr184fs
NC_000015.9:g.42680001del
NC_000015.9:g.42680002del
NM_000070.2:c.550delA
NM_000070.3:c.549delAMANE SELECT
NM_000070.3:c.550del
NM_000070.3:c.550delAMANE SELECT
NM_024344.1:c.550del
p.Thr184Argfs*36
p.Thr184ArgfsTer36

Protein change:

T184fs

Links:

Genetic Testing Registry (GTR): GTR000330880; OMIM: 114240.0009; dbSNP: rs80338800

NCBI 1000 Genomes Browser:

rs80338800

Molecular consequence:

NM_000070.3:c.550del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_024344.2:c.550del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_173087.2:c.550del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001367892	Centre for Mendelian Genomics, University Medical Centre Ljubljana	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 1, 2016)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004211526	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 26, 2024)	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

SCV001367892

Centre for Mendelian Genomics, University Medical Centre Ljubljana

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 1, 2016)

unknown

clinical testing

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

SCV004211526

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 26, 2024)

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, SCV001367892.2

#	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.

#	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, SCV004211526.2

#	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: Nov 24, 2024

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