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NM_213599.3(ANO5):c.191dup (p.Asn64fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 21, 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:
RCV002476911.4

Allele description [Variation Report for NM_213599.3(ANO5):c.191dup (p.Asn64fs)]

NM_213599.3(ANO5):c.191dup (p.Asn64fs)

Gene:
ANO5:anoctamin 5 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11p14.3
Genomic location:
Preferred name:
NM_213599.3(ANO5):c.191dup (p.Asn64fs)
HGVS:
  • NC_000011.10:g.22221107dup
  • NG_015844.1:g.32932dup
  • NM_001142649.2:c.188dup
  • NM_213599.3:c.191dupMANE SELECT
  • NP_001136121.1:p.Asn63fs
  • NP_998764.1:p.Asn64fs
  • LRG_868:g.32932dup
  • NC_000011.10:g.22221100_22221101insA
  • NC_000011.9:g.22242646_22242647insA
  • NC_000011.9:g.22242653dup
  • NM_001142649.1:c.188dupA
  • NM_213599.2:c.191dupA
  • NM_213599.3:c.191dup
  • NM_213599.3:c.191dupAMANE SELECT
  • p.(Asn64Lysfs*15)
  • p.Asn64LysfsTer15
Protein change:
N63fs
Links:
OMIM: 608662.0004; dbSNP: rs137854521
NCBI 1000 Genomes Browser:
rs137854521
Molecular consequence:
  • NM_001142649.2:c.188dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_213599.3:c.191dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Gnathodiaphyseal dysplasia (GDD)
Synonyms:
GNATHODIAPHYSEAL SCLEROSIS; Osteogenesis imperfecta Levin type; Levin syndrome 2; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008151; MedGen: C1833736; OMIM: 166260
Name:
Autosomal recessive limb-girdle muscular dystrophy type 2L (LGMDR12)
Synonyms:
Limb-girdle muscular dystrophy, type 2L; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12
Identifiers:
MONDO: MONDO:0012652; MedGen: C1969785; Orphanet: 206549; OMIM: 611307
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
SCV002801207Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 21, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics, Fulgent Genetics, SCV002801207.1

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

Last Updated: May 26, 2024