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NM_001130987.2(DYSF):c.342del (p.Ala116fs) AND Autosomal recessive limb-girdle muscular dystrophy type 2B

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 12, 2017
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:
RCV000593550.3

Allele description [Variation Report for NM_001130987.2(DYSF):c.342del (p.Ala116fs)]

NM_001130987.2(DYSF):c.342del (p.Ala116fs)

Gene:
DYSF:dysferlin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p13.2
Genomic location:
Preferred name:
NM_001130987.2(DYSF):c.342del (p.Ala116fs)
HGVS:
  • NC_000002.12:g.71503316del
  • NG_008694.1:g.54694del
  • NM_001130455.2:c.342del
  • NM_001130976.2:c.339del
  • NM_001130977.2:c.339del
  • NM_001130978.2:c.339del
  • NM_001130979.2:c.339del
  • NM_001130980.2:c.339del
  • NM_001130981.2:c.339del
  • NM_001130982.2:c.342del
  • NM_001130983.2:c.342del
  • NM_001130984.2:c.342del
  • NM_001130985.2:c.342del
  • NM_001130986.2:c.342del
  • NM_001130987.2:c.342delMANE SELECT
  • NM_003494.4:c.339del
  • NP_001123927.1:p.Ala116fs
  • NP_001124448.1:p.Ala115fs
  • NP_001124449.1:p.Ala115fs
  • NP_001124450.1:p.Ala115fs
  • NP_001124451.1:p.Ala115fs
  • NP_001124452.1:p.Ala115fs
  • NP_001124453.1:p.Ala115fs
  • NP_001124454.1:p.Ala116fs
  • NP_001124455.1:p.Ala116fs
  • NP_001124456.1:p.Ala116fs
  • NP_001124457.1:p.Ala116fs
  • NP_001124458.1:p.Ala116fs
  • NP_001124459.1:p.Ala116fs
  • NP_003485.1:p.Ala115fs
  • LRG_845t1:c.339del
  • LRG_845t2:c.342del
  • LRG_845:g.54694del
  • LRG_845p1:p.Ala115fs
  • LRG_845p2:p.Ala116fs
  • NC_000002.11:g.71730446del
  • NM_003494.3:c.339del
  • NM_003494.3:c.339delA
Protein change:
A115fs
Links:
dbSNP: rs886042379
NCBI 1000 Genomes Browser:
rs886042379
Molecular consequence:
  • NM_001130455.2:c.342del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130976.2:c.339del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130977.2:c.339del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130978.2:c.339del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130979.2:c.339del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130980.2:c.339del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130981.2:c.339del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130982.2:c.342del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130983.2:c.342del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130984.2:c.342del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130985.2:c.342del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130986.2:c.342del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130987.2:c.342del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003494.4:c.339del - 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
SCV000790869Counsyl
no assertion criteria provided
Likely pathogenic
(Apr 12, 2017) 		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

Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy.

Jin SQ, Yu M, Zhang W, Lyu H, Yuan Y, Wang ZX.

Chin Med J (Engl). 2016 Oct 5;129(19):2287-93. doi: 10.4103/0366-6999.190671.

PubMed [citation]
PMID:
27647186
PMCID:
PMC5040013

Details of each submission

From Counsyl, SCV000790869.2

#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