NM_001148.6(ANK2):c.11718G>A (p.Arg3906=) AND not specified

Clinical significance:Benign (Last evaluated: Feb 5, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000779696.1

Allele description [Variation Report for NM_001148.6(ANK2):c.11718G>A (p.Arg3906=)]

NM_001148.6(ANK2):c.11718G>A (p.Arg3906=)

Gene:
ANK2:ankyrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_001148.6(ANK2):c.11718G>A (p.Arg3906=)
HGVS:
  • NC_000004.12:g.113373308G>A
  • NG_009006.2:g.560226G>A
  • NM_001127493.2:c.5436G>A
  • NM_001148.6:c.11718G>AMANE SELECT
  • NM_001354225.1:c.5475G>A
  • NM_001354228.1:c.5457G>A
  • NM_001354230.1:c.5442G>A
  • NM_001354231.1:c.5598G>A
  • NM_001354232.1:c.5592G>A
  • NM_001354235.1:c.5553G>A
  • NM_001354236.1:c.5361G>A
  • NM_001354237.1:c.5541G>A
  • NM_001354239.1:c.5526G>A
  • NM_001354240.1:c.5508G>A
  • NM_001354241.1:c.5508G>A
  • NM_001354242.1:c.5505G>A
  • NM_001354243.1:c.5493G>A
  • NM_001354244.1:c.5490G>A
  • NM_001354245.1:c.5301G>A
  • NM_001354246.1:c.5460G>A
  • NM_001354249.1:c.5277G>A
  • NM_001354252.1:c.5433G>A
  • NM_001354253.1:c.5238G>A
  • NM_001354254.1:c.5412G>A
  • NM_001354255.1:c.5400G>A
  • NM_001354256.1:c.5397G>A
  • NM_001354257.1:c.5202G>A
  • NM_001354258.1:c.5364G>A
  • NM_001354260.1:c.5178G>A
  • NM_001354261.1:c.5322G>A
  • NM_001354262.1:c.5301G>A
  • NM_001354264.1:c.5298G>A
  • NM_001354265.1:c.5436+135G>A
  • NM_001354266.1:c.5277G>A
  • NM_001354267.1:c.5277G>A
  • NM_001354268.1:c.5265G>A
  • NM_001354269.1:c.5250G>A
  • NM_001354270.1:c.5238G>A
  • NM_001354271.1:c.5178G>A
  • NM_001354272.1:c.5310+135G>A
  • NM_001354273.1:c.5163G>A
  • NM_001354274.1:c.5298+135G>A
  • NM_001354275.1:c.5277+135G>A
  • NM_001354276.1:c.5253+135G>A
  • NM_001354277.1:c.5055+135G>A
  • NM_001354278.1:c.2991G>A
  • NM_001354279.1:c.3027G>A
  • NM_001354280.1:c.3012G>A
  • NM_001354281.1:c.2991G>A
  • NM_001354282.1:c.3003+135G>A
  • NM_020977.4:c.5463G>A
  • NP_001120965.1:p.Arg1812=
  • NP_001139.3:p.Arg3906=
  • NP_001341154.1:p.Arg1825=
  • NP_001341157.1:p.Arg1819=
  • NP_001341159.1:p.Arg1814=
  • NP_001341160.1:p.Arg1866=
  • NP_001341161.1:p.Arg1864=
  • NP_001341164.1:p.Arg1851=
  • NP_001341165.1:p.Arg1787=
  • NP_001341166.1:p.Arg1847=
  • NP_001341168.1:p.Arg1842=
  • NP_001341169.1:p.Arg1836=
  • NP_001341170.1:p.Arg1836=
  • NP_001341171.1:p.Arg1835=
  • NP_001341172.1:p.Arg1831=
  • NP_001341173.1:p.Arg1830=
  • NP_001341174.1:p.Arg1767=
  • NP_001341175.1:p.Arg1820=
  • NP_001341178.1:p.Arg1759=
  • NP_001341181.1:p.Arg1811=
  • NP_001341182.1:p.Arg1746=
  • NP_001341183.1:p.Arg1804=
  • NP_001341184.1:p.Arg1800=
  • NP_001341185.1:p.Arg1799=
  • NP_001341186.1:p.Arg1734=
  • NP_001341187.1:p.Arg1788=
  • NP_001341189.1:p.Arg1726=
  • NP_001341190.1:p.Arg1774=
  • NP_001341191.1:p.Arg1767=
  • NP_001341193.1:p.Arg1766=
  • NP_001341195.1:p.Arg1759=
  • NP_001341196.1:p.Arg1759=
  • NP_001341197.1:p.Arg1755=
  • NP_001341198.1:p.Arg1750=
  • NP_001341199.1:p.Arg1746=
  • NP_001341200.1:p.Arg1726=
  • NP_001341202.1:p.Arg1721=
  • NP_001341207.1:p.Arg997=
  • NP_001341208.1:p.Arg1009=
  • NP_001341209.1:p.Arg1004=
  • NP_001341210.1:p.Arg997=
  • NP_066187.2:p.Arg1821=
  • LRG_327t1:c.11718G>A
  • LRG_327:g.560226G>A
  • NC_000004.11:g.114294464G>A
  • NM_001148.4:c.11718G>A
Links:
dbSNP: rs35724152
NCBI 1000 Genomes Browser:
rs35724152
Molecular consequence:
  • NM_001354265.1:c.5436+135G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354272.1:c.5310+135G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354274.1:c.5298+135G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354275.1:c.5277+135G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354276.1:c.5253+135G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354277.1:c.5055+135G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354282.1:c.3003+135G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001127493.2:c.5436G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001148.6:c.11718G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354225.1:c.5475G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354228.1:c.5457G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354230.1:c.5442G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354231.1:c.5598G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354232.1:c.5592G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354235.1:c.5553G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354236.1:c.5361G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354237.1:c.5541G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354239.1:c.5526G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354240.1:c.5508G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354241.1:c.5508G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354242.1:c.5505G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354243.1:c.5493G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354244.1:c.5490G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354245.1:c.5301G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354246.1:c.5460G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354249.1:c.5277G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354252.1:c.5433G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354253.1:c.5238G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354254.1:c.5412G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354255.1:c.5400G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354256.1:c.5397G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354257.1:c.5202G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354258.1:c.5364G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354260.1:c.5178G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354261.1:c.5322G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354262.1:c.5301G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354264.1:c.5298G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354266.1:c.5277G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354267.1:c.5277G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354268.1:c.5265G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354269.1:c.5250G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354270.1:c.5238G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354271.1:c.5178G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354273.1:c.5163G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354278.1:c.2991G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354279.1:c.3027G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354280.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354281.1:c.2991G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_020977.4:c.5463G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000916448Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Benign
(Feb 5, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000916448.1

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

Description

Variant summary: ANK2 c.11718G>A alters a non-conserved nucleotide resulting in a synonymous change. Several computational tools predict a significant impact on normal splicing: Five predict the variant abolishes a cryptic exonic 5' splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00042 in 276830 control chromosomes in gnomAD. The observed variant frequency is approximately 41.9 fold of the estimated maximal expected allele frequency for a pathogenic variant in ANK2 causing Arrhythmia phenotype (1e-05), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.11718G>A in individuals affected with Arrhythmia and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and has classified the variant as benign. Based on the evidence outlined above, the variant was classified as benign.

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

Last Updated: Sep 18, 2021

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