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NM_000070.3(CAPN3):c.1420_1433delinsC (p.Ser474fs) AND Muscular dystrophy, limb-girdle, autosomal dominant 4

Germline classification:
no classifications from unflagged records (1 submission)
Last evaluated:
Apr 24, 2024
Review status:
no classifications from unflagged records
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:
RCV003460309.2

Allele description [Variation Report for NM_000070.3(CAPN3):c.1420_1433delinsC (p.Ser474fs)]

NM_000070.3(CAPN3):c.1420_1433delinsC (p.Ser474fs)

Gene:
CAPN3:calpain 3 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
15q15.1
Genomic location:
Preferred name:
NM_000070.3(CAPN3):c.1420_1433delinsC (p.Ser474fs)
HGVS:
  • NC_000015.10:g.42401706_42401719delinsC
  • NG_008660.1:g.58604_58617delinsC
  • NG_191342.1:g.173_186delinsC
  • NM_000070.3:c.1420_1433delinsCMANE SELECT
  • NM_024344.2:c.1420_1433delinsC
  • NM_173087.2:c.1276_1289delinsC
  • NM_212464.2:c.1159_1172delTCGGAGGTGATTTGinsC
  • NM_212467.2:c.*1113_*1126delTCGGAGGTGATTTGinsC
  • NP_000061.1:p.Ser474fs
  • NP_077320.1:p.Ser474fs
  • NP_775110.1:p.Ser426fs
  • NP_997629.1:p.Ser387Profs
  • LRG_849t1:c.1420_1433delinsC
  • LRG_849:g.58604_58617delinsC
  • LRG_849p1:p.Ser474fs
  • NC_000015.9:g.42693904_42693917delinsC
Protein change:
S426fs
Molecular consequence:
  • NM_000070.3:c.1420_1433delinsC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_024344.2:c.1420_1433delinsC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_173087.2:c.1276_1289delinsC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_212464.2:c.1159_1172delTCGGAGGTGATTTGinsC - 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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Assertion and evidence details

Help
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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

Details of each submission

From Baylor Genetics, SCV004213739.1

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

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004213739Baylor Genetics
flagged submission
Reason: Other
Notes: Flagging candidate with reason of insufficient supporting evidence. This gene has been classified as having a limited gene-disease relationship by a ClinGen Expert Panel.

(ACMG Guidelines, 2015)		Likely pathogenic
(Aug 3, 2023) 		unknownclinical testing

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

Last Updated: Jul 23, 2024