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NM_005186.4(CAPN1):c.1165+1G>A AND Autosomal recessive spastic paraplegia type 76

Germline classification:
Pathogenic (1 submission)
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:
RCV001290100.1

Allele description [Variation Report for NM_005186.4(CAPN1):c.1165+1G>A]

NM_005186.4(CAPN1):c.1165+1G>A

Gene:
CAPN1:calpain 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.1
Genomic location:
Preferred name:
NM_005186.4(CAPN1):c.1165+1G>A
HGVS:
  • NC_000011.10:g.65188747G>A
  • NG_052817.1:g.12533G>A
  • NG_122909.1:g.610G>A
  • NM_001198868.2:c.1165+1G>A
  • NM_001198869.2:c.1165+1G>A
  • NM_005186.4:c.1165+1G>AMANE SELECT
  • NC_000011.9:g.64956218G>A
  • NM_001198868.1:c.1165+1G>A
Links:
dbSNP: rs781004578
NCBI 1000 Genomes Browser:
rs781004578
Molecular consequence:
  • NM_001198868.2:c.1165+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001198869.2:c.1165+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_005186.4:c.1165+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

Name:
Autosomal recessive spastic paraplegia type 76
Identifiers:
MONDO: MONDO:0014827; MedGen: C5567483; OMIM: 616907

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001446323Paris Brain Institute, Inserm - ICM
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicunknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not 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

Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.

Méreaux JL, Firanescu C, Coarelli G, Kvarnung M, Rodrigues R, Pegoraro E, Tazir M, Taithe F, Valter R, Huin V, Lidström K, Banneau G, Morais S, Parodi L, Coutelier M, Papin M, Svenningsson P, Azulay JP, Alonso I, Nilsson D, Brice A, Le Guern E, et al.

Neurogenetics. 2021 Mar;22(1):71-79. doi: 10.1007/s10048-020-00633-2. Epub 2021 Jan 23.

PubMed [citation]
PMID:
33486633
PMCID:
PMC7997841

Details of each submission

From Paris Brain Institute, Inserm - ICM, SCV001446323.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 10, 2023