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NM_001130987.2(DYSF):c.4290CCG[1] (p.Arg1432del) AND Autosomal recessive limb-girdle muscular dystrophy type 2B

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 13, 2018
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:
RCV000672706.1

Allele description [Variation Report for NM_001130987.2(DYSF):c.4290CCG[1] (p.Arg1432del)]

NM_001130987.2(DYSF):c.4290CCG[1] (p.Arg1432del)

Gene:
DYSF:dysferlin [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
2p13.2
Genomic location:
Preferred name:
NM_001130987.2(DYSF):c.4290CCG[1] (p.Arg1432del)
HGVS:
  • NC_000002.12:g.71612709CCG[1]
  • NG_008694.1:g.164087CCG[1]
  • NM_001130455.2:c.4239CCG[1]
  • NM_001130976.2:c.4194CCG[1]
  • NM_001130977.2:c.4194CCG[1]
  • NM_001130978.2:c.4236CCG[1]
  • NM_001130979.2:c.4329CCG[1]
  • NM_001130980.2:c.4287CCG[1]
  • NM_001130981.2:c.4287CCG[1]
  • NM_001130982.2:c.4332CCG[1]
  • NM_001130983.2:c.4239CCG[1]
  • NM_001130984.2:c.4197CCG[1]
  • NM_001130985.2:c.4290CCG[1]
  • NM_001130986.2:c.4197CCG[1]
  • NM_001130987.2:c.4290CCG[1]MANE SELECT
  • NM_003494.4:c.4236CCG[1]
  • NP_001123927.1:p.Arg1415del
  • NP_001124448.1:p.Arg1400del
  • NP_001124449.1:p.Arg1400del
  • NP_001124450.1:p.Arg1414del
  • NP_001124451.1:p.Arg1445del
  • NP_001124452.1:p.Arg1431del
  • NP_001124453.1:p.Arg1431del
  • NP_001124454.1:p.Arg1446del
  • NP_001124455.1:p.Arg1415del
  • NP_001124456.1:p.Arg1401del
  • NP_001124457.1:p.Arg1432del
  • NP_001124458.1:p.Arg1401del
  • NP_001124459.1:p.Arg1432del
  • NP_003485.1:p.Arg1414del
  • LRG_845t1:c.4236CCG[1]
  • LRG_845t2:c.4290CCG[1]
  • LRG_845:g.164087CCG[1]
  • LRG_845p1:p.Arg1414del
  • LRG_845p2:p.Arg1432del
  • NC_000002.11:g.71839839CCG[1]
  • NM_003494.3:c.4239_4241delCCG
Protein change:
R1400del
Links:
dbSNP: rs765090357
NCBI 1000 Genomes Browser:
rs765090357
Molecular consequence:
  • NM_001130455.2:c.4239CCG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001130976.2:c.4194CCG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001130977.2:c.4194CCG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001130978.2:c.4236CCG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001130979.2:c.4329CCG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001130980.2:c.4287CCG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001130981.2:c.4287CCG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001130982.2:c.4332CCG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001130983.2:c.4239CCG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001130984.2:c.4197CCG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001130985.2:c.4290CCG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001130986.2:c.4197CCG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001130987.2:c.4290CCG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_003494.4:c.4236CCG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000797840Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Feb 13, 2018) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000797840.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023