U.S. flag

An official website of the United States government

NM_001130987.2(DYSF):c.4387+2T>C AND Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 22, 2023
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:
RCV001040069.8

Allele description [Variation Report for NM_001130987.2(DYSF):c.4387+2T>C]

NM_001130987.2(DYSF):c.4387+2T>C

Gene:
DYSF:dysferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.2
Genomic location:
Preferred name:
NM_001130987.2(DYSF):c.4387+2T>C
HGVS:
  • NC_000002.12:g.71612808T>C
  • NG_008694.1:g.164186T>C
  • NM_001130455.2:c.4336+2T>C
  • NM_001130976.2:c.4291+2T>C
  • NM_001130977.2:c.4291+2T>C
  • NM_001130978.2:c.4333+2T>C
  • NM_001130979.2:c.4426+2T>C
  • NM_001130980.2:c.4384+2T>C
  • NM_001130981.2:c.4384+2T>C
  • NM_001130982.2:c.4429+2T>C
  • NM_001130983.2:c.4336+2T>C
  • NM_001130984.2:c.4294+2T>C
  • NM_001130985.2:c.4387+2T>C
  • NM_001130986.2:c.4294+2T>C
  • NM_001130987.2:c.4387+2T>CMANE SELECT
  • NM_003494.4:c.4333+2T>C
  • LRG_845t1:c.4333+2T>C
  • LRG_845t2:c.4387+2T>C
  • LRG_845:g.164186T>C
  • NC_000002.11:g.71839938T>C
  • NM_003494.3:c.4333+2T>C
Links:
dbSNP: rs759939755
Molecular consequence:
  • NM_001130455.2:c.4336+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001130976.2:c.4291+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001130977.2:c.4291+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001130978.2:c.4333+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001130979.2:c.4426+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001130980.2:c.4384+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001130981.2:c.4384+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001130982.2:c.4429+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001130983.2:c.4336+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001130984.2:c.4294+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001130985.2:c.4387+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001130986.2:c.4294+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001130987.2:c.4387+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_003494.4:c.4333+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001203624Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely pathogenic
(Sep 22, 2023) 		germlineclinical testing

PubMed (4)
[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 (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001203624.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

ClinVar contains an entry for this variant (Variation ID: 838510). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with DYSF-related conditions. This variant is present in population databases (rs759939755, gnomAD 0.01%). This sequence change affects a donor splice site in intron 39 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).

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

Last Updated: Apr 12, 2026

Modify your search Search (all fields optional) Clear all
Advanced Search