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NM_213599.2(ANO5):c.989dupT (p.Leu330Phefs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 22, 2013
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000082856.3

Allele description

NM_213599.2(ANO5):c.989dupT (p.Leu330Phefs)

Gene:
ANO5:anoctamin 5 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11p14.3
Genomic location:
Preferred name:
NM_213599.2(ANO5):c.989dupT (p.Leu330Phefs)
HGVS:
  • NC_000011.10:g.22250347dupT
  • NG_015844.1:g.62172dupT
  • NM_213599.2:c.989dupT
  • NP_998764.1:p.Leu330Phefs
  • LRG_868t1:c.989dupT
  • LRG_868:g.62172dupT
  • LRG_868p1:p.Leu330Phefs
  • NC_000011.9:g.22271893dupT
  • NM_213599.2:c.989dup
Links:
dbSNP: rs398124626
NCBI 1000 Genomes Browser:
rs398124626
Molecular consequence:
  • NM_213599.2:c.989dupT - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN221809

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000114908Emory Genetics Laboratory,Emory University
no assertion criteria provided
Pathogenic
(Apr 22, 2013) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot provided135not providedclinical testing

Citations

PubMed

Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.

Bean LJ, Tinker SW, da Silva C, Hegde MR.

Hum Mutat. 2013 Sep;34(9):1183-8. doi: 10.1002/humu.22364. Epub 2013 Aug 5.

PubMed [citation]
PMID:
23757202

Details of each submission

From Emory Genetics Laboratory,Emory University, SCV000114908.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided0not providednot providedclinical testing PubMed (1)
2not provided0not providednot providedclinical testing PubMed (1)
3not provided0not providednot providedclinical testing PubMed (1)
4not provided0not providednot providedclinical testing PubMed (1)
5not provided0not providednot providedclinical testing PubMed (1)
6not provided2not providednot providedclinical testing PubMed (1)
7not provided0not providednot providedclinical testing PubMed (1)
8not provided0not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided0not providednot providednot provided
2germlineunknownnot providednot providednot provided0not providednot providednot provided
3germlineunknownnot providednot providednot provided0not providednot providednot provided
4germlineunknown2not providednot provided0not providednot providednot provided
5germlineunknownnot providednot providednot provided0not providednot providednot provided
6germlineunknown105not providednot provided2not providednot providednot provided
7germlineunknown13not providednot provided0not providednot providednot provided
8germlineunknown15not providednot provided0not providednot providednot provided

Last Updated: Nov 26, 2016