NM_213599.3(ANO5):c.139-164del AND Miyoshi muscular dystrophy 3

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 14, 2021
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:
RCV001553825.2

Allele description [Variation Report for NM_213599.3(ANO5):c.139-164del]

NM_213599.3(ANO5):c.139-164del

Gene:
ANO5:anoctamin 5 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11p14.3
Genomic location:
Preferred name:
NM_213599.3(ANO5):c.139-164del
HGVS:
  • NC_000011.10:g.22218076del
  • NC_000011.10:g.22218082del
  • NG_015844.1:g.29907del
  • NM_001142649.2:c.136-164del
  • NM_213599.3:c.139-164delMANE SELECT
  • LRG_868t1:c.139-164del
  • LRG_868:g.29907del
  • NC_000011.9:g.22239628del
  • NM_213599.2:c.139-164delT
  • NM_213599.2:c.139-170delT
Links:
dbSNP: rs60388835
NCBI 1000 Genomes Browser:
rs60388835
Molecular consequence:
  • NM_001142649.2:c.136-164del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_213599.3:c.139-164del - intron variant - [Sequence Ontology: SO:0001627]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001774892Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 14, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genome-Nilou Lab, SCV001774892.1

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

Last Updated: Aug 5, 2023