NM_000070.3(CAPN3):c.689del (p.Asp230fs) AND Abnormality of the musculature

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 10, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001814523.1

Allele description [Variation Report for NM_000070.3(CAPN3):c.689del (p.Asp230fs)]

NM_000070.3(CAPN3):c.689del (p.Asp230fs)

Gene:

CAPN3:calpain 3 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

15q15.1

Genomic location:

Preferred name:

NM_000070.3(CAPN3):c.689del (p.Asp230fs)

HGVS:

NC_000015.10:g.42388984del
NG_008660.1:g.45882del
NM_000070.3:c.689delMANE SELECT
NM_024344.2:c.689del
NM_173087.2:c.689del
NP_000061.1:p.Asp230fs
NP_077320.1:p.Asp230fs
NP_775110.1:p.Asp230fs
LRG_849t1:c.689del
LRG_849:g.45882del
LRG_849p1:p.Asp230fs
NC_000015.9:g.42681182del
NM_000070.3:c.689delAMANE SELECT

Protein change:

D230fs

Links:

dbSNP: rs2141167797

NCBI 1000 Genomes Browser:

rs2141167797

Molecular consequence:

NM_000070.3:c.689del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_024344.2:c.689del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_173087.2:c.689del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Abnormality of the musculature
Identifiers:: MedGen: C4021745; Human Phenotype Ontology: HP:0003011

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001755537	Kariminejad - Najmabadi Pathology & Genetics Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 10, 2021)	germline	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

SCV001755537

Kariminejad - Najmabadi Pathology & Genetics Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 10, 2021)

germline

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	germline	yes	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 Kariminejad - Najmabadi Pathology & Genetics Center, SCV001755537.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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