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NM_213599.3(ANO5):c.898dup (p.Ile300fs) AND Miyoshi muscular dystrophy 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 10, 2020
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:
RCV001254063.5

Allele description [Variation Report for NM_213599.3(ANO5):c.898dup (p.Ile300fs)]

NM_213599.3(ANO5):c.898dup (p.Ile300fs)

Gene:
ANO5:anoctamin 5 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11p14.3
Genomic location:
Preferred name:
NM_213599.3(ANO5):c.898dup (p.Ile300fs)
HGVS:
  • NC_000011.10:g.22250256dup
  • NG_015844.1:g.62081dup
  • NM_001142649.2:c.895dup
  • NM_213599.2:c.898dup
  • NM_213599.3:c.898dupMANE SELECT
  • NP_001136121.1:p.Ile299fs
  • NP_998764.1:p.Ile300fs
  • LRG_868t1:c.898dup
  • LRG_868:g.62081dup
  • NC_000011.9:g.22271796_22271797insA
  • NC_000011.9:g.22271802dup
Protein change:
I299fs
Links:
dbSNP: rs1383346134
NCBI 1000 Genomes Browser:
rs1383346134
Molecular consequence:
  • NM_001142649.2:c.895dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_213599.3:c.898dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Miyoshi muscular dystrophy 3 (MMD3)
Synonyms:
Miyoshi myopathy 3
Identifiers:
MONDO: MONDO:0013222; MedGen: C2750076; Orphanet: 399096; OMIM: 613319

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001429973Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
criteria provided, single submitter

(Classification criteria August 2017)		Pathogenic
(Feb 10, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV001429973.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1bloodnot provided1not providednot providednot provided

Last Updated: Oct 8, 2024