NM_003494.3(DYSF):c.3041A>G (p.Tyr1014Cys) AND Limb-girdle muscular dystrophy, type 2B

Clinical significance:Pathogenic (Last evaluated: Aug 5, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000176934.2

Allele description

NM_003494.3(DYSF):c.3041A>G (p.Tyr1014Cys)

Gene:
DYSF:dysferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.2
Genomic location:
Preferred name:
NM_003494.3(DYSF):c.3041A>G (p.Tyr1014Cys)
HGVS:
  • NC_000002.12:g.71570608A>G
  • NG_008694.1:g.121986A>G
  • NM_001130987.1:c.3095A>G
  • NM_003494.3:c.3041A>G
  • NP_001124459.1:p.Tyr1032Cys
  • NP_003485.1:p.Tyr1014Cys
  • NC_000002.11:g.71797738A>G
Protein change:
Y1014C
Links:
dbSNP: rs756328339
NCBI 1000 Genomes Browser:
rs756328339
Allele Frequency:
0.00003(G)
Molecular consequence:
  • NM_003494.3:c.3041A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Name:
Limb-girdle muscular dystrophy, type 2B (LGMD2B)
Identifiers:
MedGen: C1850889; Orphanet: 268; OMIM: 253601

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000228712EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Aug 5, 2016)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown3not providednot providednot providednot providedclinical testing

Citations

PubMed

Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function.

Van Goor F, Yu H, Burton B, Hoffman BJ.

J Cyst Fibros. 2014 Jan;13(1):29-36. doi: 10.1016/j.jcf.2013.06.008. Epub 2013 Jul 23.

PubMed [citation]
PMID:
23891399

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000228712.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

Last Updated: Apr 2, 2018