NM_001148.6(ANK2):c.11198_11200del (p.Gly3733del) AND Brugada syndrome

Clinical significance:Likely benign (Last evaluated: Feb 9, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000157113.2

Allele description [Variation Report for NM_001148.6(ANK2):c.11198_11200del (p.Gly3733del)]

NM_001148.6(ANK2):c.11198_11200del (p.Gly3733del)

Gene:
ANK2:ankyrin 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_001148.6(ANK2):c.11198_11200del (p.Gly3733del)
HGVS:
  • NC_000004.12:g.113367731_113367733del
  • NG_009006.2:g.554649_554651del
  • NM_001127493.2:c.4916_4918del
  • NM_001148.6:c.11198_11200delMANE SELECT
  • NM_001354225.1:c.4955_4957del
  • NM_001354228.1:c.4844_4846del
  • NM_001354230.1:c.4922_4924del
  • NM_001354231.1:c.4985_4987del
  • NM_001354232.1:c.4979_4981del
  • NM_001354235.1:c.4940_4942del
  • NM_001354236.1:c.4841_4843del
  • NM_001354237.1:c.5021_5023del
  • NM_001354239.1:c.4913_4915del
  • NM_001354240.1:c.4988_4990del
  • NM_001354241.1:c.4988_4990del
  • NM_001354242.1:c.4985_4987del
  • NM_001354243.1:c.4880_4882del
  • NM_001354244.1:c.4877_4879del
  • NM_001354245.1:c.4781_4783del
  • NM_001354246.1:c.4940_4942del
  • NM_001354249.1:c.4757_4759del
  • NM_001354252.1:c.4913_4915del
  • NM_001354253.1:c.4718_4720del
  • NM_001354254.1:c.4892_4894del
  • NM_001354255.1:c.4880_4882del
  • NM_001354256.1:c.4877_4879del
  • NM_001354257.1:c.4682_4684del
  • NM_001354258.1:c.4844_4846del
  • NM_001354260.1:c.4658_4660del
  • NM_001354261.1:c.4802_4804del
  • NM_001354262.1:c.4781_4783del
  • NM_001354264.1:c.4778_4780del
  • NM_001354265.1:c.4940_4942del
  • NM_001354266.1:c.4757_4759del
  • NM_001354267.1:c.4757_4759del
  • NM_001354268.1:c.4745_4747del
  • NM_001354269.1:c.4730_4732del
  • NM_001354270.1:c.4718_4720del
  • NM_001354271.1:c.4658_4660del
  • NM_001354272.1:c.4814_4816del
  • NM_001354273.1:c.4643_4645del
  • NM_001354274.1:c.4709_4711del
  • NM_001354275.1:c.4781_4783del
  • NM_001354276.1:c.4757_4759del
  • NM_001354277.1:c.4559_4561del
  • NM_001354278.1:c.2471_2473del
  • NM_001354279.1:c.2507_2509del
  • NM_001354280.1:c.2492_2494del
  • NM_001354281.1:c.2471_2473del
  • NM_001354282.1:c.2507_2509del
  • NM_020977.4:c.4943_4945del
  • NP_001120965.1:p.Gly1639del
  • NP_001139.3:p.Gly3733del
  • NP_001341154.1:p.Gly1652del
  • NP_001341157.1:p.Gly1615del
  • NP_001341159.1:p.Gly1641del
  • NP_001341160.1:p.Gly1662del
  • NP_001341161.1:p.Gly1660del
  • NP_001341164.1:p.Gly1647del
  • NP_001341165.1:p.Gly1614del
  • NP_001341166.1:p.Gly1674del
  • NP_001341168.1:p.Gly1638del
  • NP_001341169.1:p.Gly1663del
  • NP_001341170.1:p.Gly1663del
  • NP_001341171.1:p.Gly1662del
  • NP_001341172.1:p.Gly1627del
  • NP_001341173.1:p.Gly1626del
  • NP_001341174.1:p.Gly1594del
  • NP_001341175.1:p.Gly1647del
  • NP_001341178.1:p.Gly1586del
  • NP_001341181.1:p.Gly1638del
  • NP_001341182.1:p.Gly1573del
  • NP_001341183.1:p.Gly1631del
  • NP_001341184.1:p.Gly1627del
  • NP_001341185.1:p.Gly1626del
  • NP_001341186.1:p.Gly1561del
  • NP_001341187.1:p.Gly1615del
  • NP_001341189.1:p.Gly1553del
  • NP_001341190.1:p.Gly1601del
  • NP_001341191.1:p.Gly1594del
  • NP_001341193.1:p.Gly1593del
  • NP_001341194.1:p.Gly1647del
  • NP_001341195.1:p.Gly1586del
  • NP_001341196.1:p.Gly1586del
  • NP_001341197.1:p.Gly1582del
  • NP_001341198.1:p.Gly1577del
  • NP_001341199.1:p.Gly1573del
  • NP_001341200.1:p.Gly1553del
  • NP_001341201.1:p.Gly1605del
  • NP_001341202.1:p.Gly1548del
  • NP_001341203.1:p.Gly1570del
  • NP_001341204.1:p.Gly1594del
  • NP_001341205.1:p.Gly1586del
  • NP_001341206.1:p.Gly1520del
  • NP_001341207.1:p.Gly824del
  • NP_001341208.1:p.Gly836del
  • NP_001341209.1:p.Gly831del
  • NP_001341210.1:p.Gly824del
  • NP_001341211.1:p.Gly836del
  • NP_066187.2:p.Gly1648del
  • LRG_327t1:c.11198_11200del
  • LRG_327:g.554649_554651del
  • NC_000004.11:g.114288887_114288889del
  • NM_001148.4:c.11198_11200delGGG
Protein change:
G1520del
Links:
dbSNP: rs730880049
NCBI 1000 Genomes Browser:
rs730880049
Molecular consequence:
  • NM_001127493.2:c.4916_4918del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001148.6:c.11198_11200del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354225.1:c.4955_4957del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354228.1:c.4844_4846del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354230.1:c.4922_4924del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354231.1:c.4985_4987del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354232.1:c.4979_4981del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354235.1:c.4940_4942del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354236.1:c.4841_4843del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354237.1:c.5021_5023del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354239.1:c.4913_4915del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354240.1:c.4988_4990del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354241.1:c.4988_4990del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354242.1:c.4985_4987del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354243.1:c.4880_4882del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354244.1:c.4877_4879del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354245.1:c.4781_4783del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354246.1:c.4940_4942del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354249.1:c.4757_4759del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354252.1:c.4913_4915del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354253.1:c.4718_4720del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354254.1:c.4892_4894del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354255.1:c.4880_4882del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354256.1:c.4877_4879del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354257.1:c.4682_4684del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354258.1:c.4844_4846del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354260.1:c.4658_4660del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354261.1:c.4802_4804del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354262.1:c.4781_4783del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354264.1:c.4778_4780del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354265.1:c.4940_4942del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354266.1:c.4757_4759del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354267.1:c.4757_4759del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354268.1:c.4745_4747del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354269.1:c.4730_4732del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354270.1:c.4718_4720del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354271.1:c.4658_4660del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354272.1:c.4814_4816del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354273.1:c.4643_4645del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354274.1:c.4709_4711del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354275.1:c.4781_4783del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354276.1:c.4757_4759del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354277.1:c.4559_4561del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354278.1:c.2471_2473del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354279.1:c.2507_2509del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354280.1:c.2492_2494del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354281.1:c.2471_2473del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354282.1:c.2507_2509del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_020977.4:c.4943_4945del - inframe_deletion - [Sequence Ontology: SO:0001822]
Observations:
1

Condition(s)

Name:
Brugada syndrome
Synonyms:
Sudden unexpected nocturnal death syndrome; Sudden unexplained nocturnal death syndrome; Sudden Unexplained Death Syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015263; MedGen: C1142166; OMIM: PS601144

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000206836Blueprint Geneticsno assertion criteria providedUncertain significance
(May 9, 2014)
germlineclinical testing

SCV001156267Agnes Ginges Centre for Molecular Cardiology,Centenary Institutecriteria provided, single submitter
Likely benign
(Feb 9, 2018)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing, research

Citations

PubMed

Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.

Lieve KV, Williams L, Daly A, Richard G, Bale S, Macaya D, Chung WK.

Genet Test Mol Biomarkers. 2013 Jul;17(7):553-61. doi: 10.1089/gtmb.2012.0118. Epub 2013 Apr 30.

PubMed [citation]
PMID:
23631430

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 Blueprint Genetics, SCV000206836.1

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

From Agnes Ginges Centre for Molecular Cardiology,Centenary Institute, SCV001156267.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)

Description

The ANK2 Gly3733del variant has been reported previously in 1 patient with suspected LQTS and was absent from 300 controls (Lieve KV, et al., 2004). The variant is also absent from the Genome Aggregation Database (http://gnomad.broadinstitute.org/). We identified this variant in a patient with Brugada Syndrome (same case as SCV000206836), however the variant did not segregate to their affected sibling. In summary, based on the lack of segregation in our family we classify ANK2 Gly3733del as "likely benign".

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

Last Updated: Apr 12, 2021

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