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NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His) AND Autosomal recessive limb-girdle muscular dystrophy type 2B

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Nov 10, 2017
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:
RCV000326858.3

Allele description [Variation Report for NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His)]

NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His)

Gene:
DYSF:dysferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.2
Genomic location:
Preferred name:
NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His)
HGVS:
  • NC_000002.12:g.71600724G>A
  • NG_008694.1:g.152102G>A
  • NM_001130455.2:c.3728G>A
  • NM_001130976.2:c.3683G>A
  • NM_001130977.2:c.3683G>A
  • NM_001130978.2:c.3725G>A
  • NM_001130979.2:c.3818G>A
  • NM_001130980.2:c.3776G>A
  • NM_001130981.2:c.3776G>A
  • NM_001130982.2:c.3821G>A
  • NM_001130983.2:c.3728G>A
  • NM_001130984.2:c.3686G>A
  • NM_001130985.2:c.3779G>A
  • NM_001130986.2:c.3686G>A
  • NM_001130987.2:c.3779G>AMANE SELECT
  • NM_003494.4:c.3725G>A
  • NP_001123927.1:p.Arg1243His
  • NP_001124448.1:p.Arg1228His
  • NP_001124449.1:p.Arg1228His
  • NP_001124450.1:p.Arg1242His
  • NP_001124451.1:p.Arg1273His
  • NP_001124452.1:p.Arg1259His
  • NP_001124453.1:p.Arg1259His
  • NP_001124454.1:p.Arg1274His
  • NP_001124455.1:p.Arg1243His
  • NP_001124456.1:p.Arg1229His
  • NP_001124457.1:p.Arg1260His
  • NP_001124458.1:p.Arg1229His
  • NP_001124459.1:p.Arg1260His
  • NP_003485.1:p.Arg1242His
  • LRG_845t1:c.3725G>A
  • LRG_845t2:c.3779G>A
  • LRG_845:g.152102G>A
  • LRG_845p1:p.Arg1242His
  • LRG_845p2:p.Arg1260His
  • NC_000002.11:g.71827854G>A
  • NM_003494.3:c.3725G>A
Protein change:
R1228H
Links:
dbSNP: rs2303603
NCBI 1000 Genomes Browser:
rs2303603
Molecular consequence:
  • NM_001130455.2:c.3728G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130976.2:c.3683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130977.2:c.3683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130978.2:c.3725G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130979.2:c.3818G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130980.2:c.3776G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130981.2:c.3776G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130982.2:c.3821G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130983.2:c.3728G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130984.2:c.3686G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130985.2:c.3779G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130986.2:c.3686G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130987.2:c.3779G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003494.4:c.3725G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMDR2)
Synonyms:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 3; Limb-girdle muscular dystrophy, type 2B; 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
SCV000800793Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely benign
(Nov 10, 2017) 		unknownclinical testing

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

Citation Link,

SCV001455228Natera, Inc.
no assertion criteria provided
Likely benign
(May 2, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Citations

PubMed

Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy.

Shin HY, Jang H, Han JH, Park HJ, Lee JH, Kim SW, Kim SM, Park YE, Kim DS, Bang D, Lee MG, Lee JH, Choi YC.

Neuromuscul Disord. 2015 Jun;25(6):502-10. doi: 10.1016/j.nmd.2015.03.006. Epub 2015 Mar 16.

PubMed [citation]
PMID:
25868377

Details of each submission

From Counsyl, SCV000800793.1

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

From Natera, Inc., SCV001455228.1

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

Last Updated: Apr 13, 2025