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NM_001130987.2(DYSF):c.5139del (p.Phe1713fs) AND Autosomal recessive limb-girdle muscular dystrophy type 2B

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 21, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000984169.2

Allele description [Variation Report for NM_001130987.2(DYSF):c.5139del (p.Phe1713fs)]

NM_001130987.2(DYSF):c.5139del (p.Phe1713fs)

Gene:
DYSF:dysferlin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p13.2
Genomic location:
Preferred name:
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs)
HGVS:
  • NC_000002.12:g.71664403del
  • NG_008694.1:g.215781del
  • NM_001130455.2:c.5025del
  • NM_001130976.2:c.4980del
  • NM_001130977.2:c.5043del
  • NM_001130978.2:c.5085del
  • NM_001130979.2:c.5115del
  • NM_001130980.2:c.5073del
  • NM_001130981.2:c.5136del
  • NM_001130982.2:c.5118del
  • NM_001130983.2:c.5088del
  • NM_001130984.2:c.5046del
  • NM_001130985.2:c.5076del
  • NM_001130986.2:c.4983del
  • NM_001130987.2:c.5139delMANE SELECT
  • NM_003494.4:c.5022del
  • NP_001123927.1:p.Phe1675fs
  • NP_001124448.1:p.Phe1660fs
  • NP_001124449.1:p.Phe1681fs
  • NP_001124450.1:p.Phe1695fs
  • NP_001124451.1:p.Phe1705fs
  • NP_001124452.1:p.Phe1691fs
  • NP_001124453.1:p.Phe1712fs
  • NP_001124454.1:p.Phe1706fs
  • NP_001124455.1:p.Phe1696fs
  • NP_001124456.1:p.Phe1682fs
  • NP_001124457.1:p.Phe1692fs
  • NP_001124458.1:p.Phe1661fs
  • NP_001124459.1:p.Phe1713fs
  • NP_003485.1:p.Phe1674fs
  • LRG_845t1:c.5022del
  • LRG_845t2:c.5139del
  • LRG_845:g.215781del
  • LRG_845p1:p.Phe1674fs
  • LRG_845p2:p.Phe1713fs
  • NC_000002.11:g.71891531del
  • NC_000002.11:g.71891533del
  • NM_003494.3:c.5022delT
Protein change:
F1660fs
Links:
dbSNP: rs1057519132
NCBI 1000 Genomes Browser:
rs1057519132
Molecular consequence:
  • NM_001130455.2:c.5025del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130976.2:c.4980del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130977.2:c.5043del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130978.2:c.5085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130979.2:c.5115del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130980.2:c.5073del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130981.2:c.5136del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130982.2:c.5118del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130983.2:c.5088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130984.2:c.5046del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130985.2:c.5076del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130986.2:c.4983del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130987.2:c.5139del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003494.4:c.5022del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMDR2)
Synonyms:
Limb-girdle muscular dystrophy, type 2B; Muscular dystrophy, limb-girdle, type 3; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2
Identifiers:
MONDO: MONDO:0009676; MedGen: C1850889; Orphanet: 268; OMIM: 253601

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001132182Counsyl
no assertion criteria provided
Pathogenic
(Feb 21, 2018) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial.

Walter MC, Reilich P, Thiele S, Schessl J, Schreiber H, Reiners K, Kress W, Müller-Reible C, Vorgerd M, Urban P, Schrank B, Deschauer M, Schlotter-Weigel B, Kohnen R, Lochmüller H.

Orphanet J Rare Dis. 2013 Feb 14;8:26. doi: 10.1186/1750-1172-8-26.

PubMed [citation]
PMID:
23406536
PMCID:
PMC3617000

Details of each submission

From Counsyl, SCV001132182.1

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

Last Updated: Oct 20, 2024