• not current

NM_213599.2(ANO5):c.1898+1G>A AND Limb-girdle muscular dystrophy, type 2L

Clinical significance:Pathogenic (Last evaluated: Jul 28, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000175257.2

Allele description

NM_213599.2(ANO5):c.1898+1G>A

Gene:
ANO5:anoctamin 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p14.3
Genomic location:
Preferred name:
NM_213599.2(ANO5):c.1898+1G>A
HGVS:
  • NC_000011.10:g.22263044G>A
  • NG_015844.1:g.74869G>A
  • NM_213599.2:c.1898+1G>A
  • LRG_868t1:c.1898+1G>A
  • LRG_868:g.74869G>A
  • NC_000011.9:g.22284590G>A
Links:
dbSNP: rs142027093
NCBI 1000 Genomes Browser:
rs142027093
Allele Frequency:
0.00009(A)
Molecular consequence:
  • NM_213599.2:c.1898+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
10

Condition(s)

Name:
Limb-girdle muscular dystrophy, type 2L (LGMD2L)
Synonyms:
ANO5-Related Muscle Diseases
Identifiers:
MedGen: C1969785; Orphanet: 206549; OMIM: 611307

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000226710EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Jul 28, 2016)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Description

The c.1898+1G>A ANO5 pathogenic variant has been reported in individuals with LGMD2L and Miyoshi myopathy, been shown to affect mRNA splicing,1-3 and is of a type expected to cause disease. 1. Linssen et al. Eur J Neurol. 2013 Jun;20(6):968-74. 2. Witting et al. J Neurol. 2013 Aug;260(8):2084-93. 3. Wahbi et al. Int J Cardiol. 2013 Sep 20;168(1):76-9. AKT 7-28-16

SCV000226710

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown10not providednot providednot providednot providedclinical testing

Citations

PubMed

Dilated cardiomyopathy in patients with mutations in anoctamin 5.

Wahbi K, Béhin A, Bécane HM, Leturcq F, Cossée M, Laforêt P, Stojkovic T, Carlier P, Toussaint M, Gaxotte V, Cluzel P, Eymard B, Duboc D.

Int J Cardiol. 2013 Sep 20;168(1):76-9. doi: 10.1016/j.ijcard.2012.09.070. Epub 2012 Oct 3.

PubMed [citation]
PMID:
23041008

Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy.

Linssen WH, de Voogt WG, Krahn M, Bernard R, Levy N, Wokke JH, Ginjaar HB, de Visser M.

Eur J Neurol. 2013 Jun;20(6):968-74. doi: 10.1111/ene.12129. Epub 2013 Mar 26.

PubMed [citation]
PMID:
23530687
See all PubMed Citations (3)

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000226710.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided10not providednot providedclinical testing PubMed (3)

Description

The c.1898+1G>A ANO5 pathogenic variant has been reported in individuals with LGMD2L and Miyoshi myopathy, been shown to affect mRNA splicing,1-3 and is of a type expected to cause disease. 1. Linssen et al. Eur J Neurol. 2013 Jun;20(6):968-74. 2. Witting et al. J Neurol. 2013 Aug;260(8):2084-93. 3. Wahbi et al. Int J Cardiol. 2013 Sep 20;168(1):76-9. AKT 7-28-16

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided10not providednot providednot provided

Last Updated: Dec 19, 2017

Support Center