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NM_000070.3(CAPN3):c.1693C>T (p.Gln565Ter) 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:
RCV003460320.2

Allele description [Variation Report for NM_000070.3(CAPN3):c.1693C>T (p.Gln565Ter)]

NM_000070.3(CAPN3):c.1693C>T (p.Gln565Ter)

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.1693C>T (p.Gln565Ter)
HGVS:
  • NC_000015.10:g.42402950C>T
  • NG_008660.1:g.59848C>T
  • NM_000070.3:c.1693C>TMANE SELECT
  • NM_024344.2:c.1693C>T
  • NM_173087.2:c.1549C>T
  • NM_173088.2:c.157C>T
  • NM_212464.2:c.*809C>T
  • NM_212467.2:c.*1386C>T
  • NP_000061.1:p.Gln565Ter
  • NP_077320.1:p.Gln565Ter
  • NP_775110.1:p.Gln517Ter
  • NP_775111.1:p.Gln53Ter
  • LRG_849t1:c.1693C>T
  • LRG_849:g.59848C>T
  • LRG_849p1:p.Gln565Ter
  • NC_000015.9:g.42695148C>T
Protein change:
Q517*
Molecular consequence:
  • NM_000070.3:c.1693C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_024344.2:c.1693C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_173087.2:c.1549C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_173088.2:c.157C>T - nonsense - [Sequence Ontology: SO:0001587]

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, SCV004213776.1

#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
SCV004213776Baylor 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)		Pathogenic
(May 2, 2023) 		unknownclinical testing

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

Last Updated: Dec 14, 2024