NM_213599.3(ANO5):c.1391delinsAT (p.Ala464fs) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000128770.1

Allele description [Variation Report for NM_213599.3(ANO5):c.1391delinsAT (p.Ala464fs)]

NM_213599.3(ANO5):c.1391delinsAT (p.Ala464fs)

Gene:
ANO5:anoctamin 5 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
11p14.3
Genomic location:
Preferred name:
NM_213599.3(ANO5):c.1391delinsAT (p.Ala464fs)
HGVS:
  • NC_000011.10:g.22257738delinsAT
  • NG_015844.1:g.69563delinsAT
  • NM_001142649.2:c.1388delinsAT
  • NM_213599.3:c.1391delinsATMANE SELECT
  • NP_001136121.1:p.Ala463fs
  • NP_998764.1:p.Ala464fs
  • LRG_868:g.69563delinsAT
  • NC_000011.9:g.22279284delinsAT
  • NM_213599.2:c.1391delCinsAT
  • p.(Ala464Aspfs*30)
Protein change:
A463fs
Links:
dbSNP: rs137854525
NCBI 1000 Genomes Browser:
rs137854525
Molecular consequence:
  • NM_001142649.2:c.1388delinsAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_213599.3:c.1391delinsAT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000172411ANO5 @LOVD
no classification provided
not providedunknownnot provided

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.

Hicks D, Sarkozy A, Muelas N, Köehler K, Huebner A, Hudson G, Chinnery PF, Barresi R, Eagle M, Polvikoski T, Bailey G, Miller J, Radunovic A, Hughes PJ, Roberts R, Krause S, Walter MC, Laval SH, Straub V, Lochmüller H, Bushby K.

Brain. 2011 Jan;134(Pt 1):171-182. doi: 10.1093/brain/awq294.

PubMed [citation]
PMID:
21186264
PMCID:
PMC4038512

Details of each submission

From ANO5 @LOVD, SCV000172411.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022