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NM_001130987.2(DYSF):c.5175-2A>G AND Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 19, 2022
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:
RCV002691234.5

Allele description [Variation Report for NM_001130987.2(DYSF):c.5175-2A>G]

NM_001130987.2(DYSF):c.5175-2A>G

Gene:
DYSF:dysferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.2
Genomic location:
Preferred name:
NM_001130987.2(DYSF):c.5175-2A>G
HGVS:
  • NC_000002.12:g.71665160A>G
  • NG_008694.1:g.216538A>G
  • NM_001130455.2:c.5061-2A>G
  • NM_001130976.2:c.5016-2A>G
  • NM_001130977.2:c.5079-2A>G
  • NM_001130978.2:c.5121-2A>G
  • NM_001130979.2:c.5151-2A>G
  • NM_001130980.2:c.5109-2A>G
  • NM_001130981.2:c.5172-2A>G
  • NM_001130982.2:c.5154-2A>G
  • NM_001130983.2:c.5124-2A>G
  • NM_001130984.2:c.5082-2A>G
  • NM_001130985.2:c.5112-2A>G
  • NM_001130986.2:c.5019-2A>G
  • NM_001130987.2:c.5175-2A>GMANE SELECT
  • NM_003494.4:c.5058-2A>G
  • LRG_845t1:c.5058-2A>G
  • LRG_845t2:c.5175-2A>G
  • LRG_845:g.216538A>G
  • NC_000002.11:g.71892290A>G
Links:
dbSNP: rs2546546691
Molecular consequence:
  • NM_001130455.2:c.5061-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001130976.2:c.5016-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001130977.2:c.5079-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001130978.2:c.5121-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001130979.2:c.5151-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001130980.2:c.5109-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001130981.2:c.5172-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001130982.2:c.5154-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001130983.2:c.5124-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001130984.2:c.5082-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001130985.2:c.5112-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001130986.2:c.5019-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001130987.2:c.5175-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_003494.4:c.5058-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Synonyms:
Qualitative or quantitative defects of dysferlin
Identifiers:
MONDO: MONDO:0016145; MedGen: C2931687

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003000491Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely pathogenic
(May 19, 2022) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Splicing in action: assessing disease causing sequence changes.

Baralle D, Baralle M.

J Med Genet. 2005 Oct;42(10):737-48. Review.

PubMed [citation]
PMID:
16199547
PMCID:
PMC1735933

Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.

Nguyen K, Bassez G, Krahn M, Bernard R, Laforêt P, Labelle V, Urtizberea JA, Figarella-Branger D, Romero N, Attarian S, Leturcq F, Pouget J, Lévy N, Eymard B.

Arch Neurol. 2007 Aug;64(8):1176-82.

PubMed [citation]
PMID:
17698709
See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003000491.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This sequence change affects an acceptor splice site in intron 45 of the DYSF gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 33610434). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 23, 2026

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