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NM_213599.3(ANO5):c.259G>A (p.Val87Ile) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:
Jun 24, 2020
Review status:
criteria provided, conflicting classifications
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:
RCV000710578.30

Allele description [Variation Report for NM_213599.3(ANO5):c.259G>A (p.Val87Ile)]

NM_213599.3(ANO5):c.259G>A (p.Val87Ile)

Gene:
ANO5:anoctamin 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p14.3
Genomic location:
Preferred name:
NM_213599.3(ANO5):c.259G>A (p.Val87Ile)
HGVS:
  • NC_000011.10:g.22221175G>A
  • NG_015844.1:g.33000G>A
  • NM_001142649.2:c.256G>A
  • NM_213599.3:c.259G>AMANE SELECT
  • NP_001136121.1:p.Val86Ile
  • NP_998764.1:p.Val87Ile
  • NP_998764.1:p.Val87Ile
  • LRG_868t1:c.259G>A
  • LRG_868:g.33000G>A
  • LRG_868p1:p.Val87Ile
  • NC_000011.9:g.22242721G>A
  • NM_213599.2:c.259G>A
Protein change:
V86I
Links:
dbSNP: rs34994927
NCBI 1000 Genomes Browser:
rs34994927
Molecular consequence:
  • NM_001142649.2:c.256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_213599.3:c.259G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000522200GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Benign
(Aug 2, 2019) 		germlineclinical testing

Citation Link,

SCV000840820Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Likely benign
(Jun 24, 2020) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV001148203CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Uncertain significance
(May 1, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

Savarese M, Di Fruscio G, Tasca G, Ruggiero L, Janssens S, De Bleecker J, Delpech M, Musumeci O, Toscano A, Angelini C, Sacconi S, Santoro L, Ricci E, Claes K, Politano L, Nigro V.

Neuromuscul Disord. 2015 Jul;25(7):533-41. doi: 10.1016/j.nmd.2015.03.011. Epub 2015 Mar 30.

PubMed [citation]
PMID:
25891276
PMCID:
PMC4502439

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From GeneDx, SCV000522200.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is associated with the following publications: (PMID: 25891276)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Athena Diagnostics, SCV000840820.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Center for Human Genetics Tuebingen, SCV001148203.25

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

Last Updated: Aug 4, 2024