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NM_001148.6(ANK2):c.10901T>A (p.Val3634Asp) AND Cardiac arrhythmia

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Jun 24, 2013
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:
RCV001841765.10

Allele description [Variation Report for NM_001148.6(ANK2):c.10901T>A (p.Val3634Asp)]

NM_001148.6(ANK2):c.10901T>A (p.Val3634Asp)

Gene:
ANK2:ankyrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_001148.6(ANK2):c.10901T>A (p.Val3634Asp)
HGVS:
  • NC_000004.12:g.113365051T>A
  • NG_009006.2:g.551969T>A
  • NM_001127493.3:c.4619T>A
  • NM_001148.6:c.10901T>AMANE SELECT
  • NM_001354225.2:c.4658T>A
  • NM_001354228.2:c.4547T>A
  • NM_001354230.2:c.4625T>A
  • NM_001354231.2:c.4688T>A
  • NM_001354232.2:c.4682T>A
  • NM_001354235.2:c.4643T>A
  • NM_001354236.2:c.4544T>A
  • NM_001354237.2:c.4724T>A
  • NM_001354239.2:c.4616T>A
  • NM_001354240.2:c.4691T>A
  • NM_001354241.2:c.4691T>A
  • NM_001354242.2:c.4688T>A
  • NM_001354243.2:c.4583T>A
  • NM_001354244.2:c.4580T>A
  • NM_001354245.2:c.4484T>A
  • NM_001354246.2:c.4643T>A
  • NM_001354249.2:c.4460T>A
  • NM_001354252.2:c.4616T>A
  • NM_001354253.2:c.4421T>A
  • NM_001354254.2:c.4595T>A
  • NM_001354255.2:c.4583T>A
  • NM_001354256.2:c.4580T>A
  • NM_001354257.2:c.4385T>A
  • NM_001354258.2:c.4547T>A
  • NM_001354260.2:c.4361T>A
  • NM_001354261.2:c.4505T>A
  • NM_001354262.2:c.4484T>A
  • NM_001354264.2:c.4481T>A
  • NM_001354265.2:c.4643T>A
  • NM_001354266.2:c.4460T>A
  • NM_001354267.2:c.4460T>A
  • NM_001354268.2:c.4448T>A
  • NM_001354269.3:c.4433T>A
  • NM_001354270.2:c.4421T>A
  • NM_001354271.2:c.4361T>A
  • NM_001354272.2:c.4517T>A
  • NM_001354273.2:c.4346T>A
  • NM_001354274.2:c.4412T>A
  • NM_001354275.2:c.4484T>A
  • NM_001354276.2:c.4460T>A
  • NM_001354277.2:c.4262T>A
  • NM_001354278.2:c.2174T>A
  • NM_001354279.2:c.2210T>A
  • NM_001354280.2:c.2195T>A
  • NM_001354281.2:c.2174T>A
  • NM_001354282.2:c.2210T>A
  • NM_001386142.1:c.10667T>A
  • NM_001386143.1:c.4583T>A
  • NM_001386144.1:c.4691T>A
  • NM_001386146.1:c.4427T>A
  • NM_001386147.1:c.4472T>A
  • NM_001386148.2:c.4631T>A
  • NM_001386149.1:c.4427T>A
  • NM_001386150.1:c.4427T>A
  • NM_001386151.1:c.4361T>A
  • NM_001386152.1:c.4703T>A
  • NM_001386153.1:c.4427T>A
  • NM_001386154.1:c.4412T>A
  • NM_001386156.1:c.4385T>A
  • NM_001386157.1:c.4262T>A
  • NM_001386158.1:c.4163T>A
  • NM_001386160.1:c.4490T>A
  • NM_001386161.1:c.4580T>A
  • NM_001386162.1:c.4460T>A
  • NM_001386166.1:c.7301T>A
  • NM_001386167.1:c.1046T>A
  • NM_001386174.1:c.11042T>A
  • NM_001386175.1:c.11018T>A
  • NM_001386186.2:c.4631T>A
  • NM_001386187.2:c.4511T>A
  • NM_020977.5:c.4646T>A
  • NP_001120965.1:p.Val1540Asp
  • NP_001139.3:p.Val3634Asp
  • NP_001341154.1:p.Val1553Asp
  • NP_001341157.1:p.Val1516Asp
  • NP_001341159.1:p.Val1542Asp
  • NP_001341160.1:p.Val1563Asp
  • NP_001341161.1:p.Val1561Asp
  • NP_001341164.1:p.Val1548Asp
  • NP_001341165.1:p.Val1515Asp
  • NP_001341166.1:p.Val1575Asp
  • NP_001341168.1:p.Val1539Asp
  • NP_001341169.1:p.Val1564Asp
  • NP_001341170.1:p.Val1564Asp
  • NP_001341171.1:p.Val1563Asp
  • NP_001341172.1:p.Val1528Asp
  • NP_001341173.1:p.Val1527Asp
  • NP_001341174.1:p.Val1495Asp
  • NP_001341175.1:p.Val1548Asp
  • NP_001341178.1:p.Val1487Asp
  • NP_001341181.1:p.Val1539Asp
  • NP_001341182.1:p.Val1474Asp
  • NP_001341183.1:p.Val1532Asp
  • NP_001341184.1:p.Val1528Asp
  • NP_001341185.1:p.Val1527Asp
  • NP_001341186.1:p.Val1462Asp
  • NP_001341187.1:p.Val1516Asp
  • NP_001341189.1:p.Val1454Asp
  • NP_001341190.1:p.Val1502Asp
  • NP_001341191.1:p.Val1495Asp
  • NP_001341193.1:p.Val1494Asp
  • NP_001341194.1:p.Val1548Asp
  • NP_001341195.1:p.Val1487Asp
  • NP_001341196.1:p.Val1487Asp
  • NP_001341197.1:p.Val1483Asp
  • NP_001341198.1:p.Val1478Asp
  • NP_001341199.1:p.Val1474Asp
  • NP_001341200.1:p.Val1454Asp
  • NP_001341201.1:p.Val1506Asp
  • NP_001341202.1:p.Val1449Asp
  • NP_001341203.1:p.Val1471Asp
  • NP_001341204.1:p.Val1495Asp
  • NP_001341205.1:p.Val1487Asp
  • NP_001341206.1:p.Val1421Asp
  • NP_001341207.1:p.Val725Asp
  • NP_001341208.1:p.Val737Asp
  • NP_001341209.1:p.Val732Asp
  • NP_001341210.1:p.Val725Asp
  • NP_001341211.1:p.Val737Asp
  • NP_001373071.1:p.Val3556Asp
  • NP_001373072.1:p.Val1528Asp
  • NP_001373073.1:p.Val1564Asp
  • NP_001373075.1:p.Val1476Asp
  • NP_001373076.1:p.Val1491Asp
  • NP_001373077.1:p.Val1544Asp
  • NP_001373078.1:p.Val1476Asp
  • NP_001373079.1:p.Val1476Asp
  • NP_001373080.1:p.Val1454Asp
  • NP_001373081.1:p.Val1568Asp
  • NP_001373082.1:p.Val1476Asp
  • NP_001373083.1:p.Val1471Asp
  • NP_001373085.1:p.Val1462Asp
  • NP_001373086.1:p.Val1421Asp
  • NP_001373087.1:p.Val1388Asp
  • NP_001373089.1:p.Val1497Asp
  • NP_001373090.1:p.Val1527Asp
  • NP_001373091.1:p.Val1487Asp
  • NP_001373095.1:p.Val2434Asp
  • NP_001373096.1:p.Val349Asp
  • NP_001373103.1:p.Val3681Asp
  • NP_001373104.1:p.Val3673Asp
  • NP_001373115.1:p.Val1544Asp
  • NP_001373116.1:p.Val1504Asp
  • NP_066187.2:p.Val1549Asp
  • LRG_327t1:c.10901T>A
  • LRG_327:g.551969T>A
  • NC_000004.11:g.114286207T>A
  • NM_001148.4:c.10901T>A
  • NM_001148.5:c.10901T>A
  • p.V3634D
Protein change:
V1388D
Links:
dbSNP: rs66785829
NCBI 1000 Genomes Browser:
rs66785829
Molecular consequence:
  • NM_001127493.3:c.4619T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001148.6:c.10901T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354225.2:c.4658T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354228.2:c.4547T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354230.2:c.4625T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354231.2:c.4688T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354232.2:c.4682T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354235.2:c.4643T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354236.2:c.4544T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354237.2:c.4724T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354239.2:c.4616T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354240.2:c.4691T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354241.2:c.4691T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354242.2:c.4688T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354243.2:c.4583T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354244.2:c.4580T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354245.2:c.4484T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354246.2:c.4643T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354249.2:c.4460T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354252.2:c.4616T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354253.2:c.4421T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354254.2:c.4595T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354255.2:c.4583T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354256.2:c.4580T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354257.2:c.4385T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354258.2:c.4547T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354260.2:c.4361T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354261.2:c.4505T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354262.2:c.4484T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354264.2:c.4481T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354265.2:c.4643T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354266.2:c.4460T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354267.2:c.4460T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354268.2:c.4448T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354269.3:c.4433T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354270.2:c.4421T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354271.2:c.4361T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354272.2:c.4517T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354273.2:c.4346T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354274.2:c.4412T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354275.2:c.4484T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354276.2:c.4460T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354277.2:c.4262T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354278.2:c.2174T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354279.2:c.2210T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354280.2:c.2195T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354281.2:c.2174T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354282.2:c.2210T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386142.1:c.10667T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386143.1:c.4583T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386144.1:c.4691T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386146.1:c.4427T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386147.1:c.4472T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386148.2:c.4631T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386149.1:c.4427T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386150.1:c.4427T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386151.1:c.4361T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386152.1:c.4703T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386153.1:c.4427T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386154.1:c.4412T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386156.1:c.4385T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386157.1:c.4262T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386158.1:c.4163T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386160.1:c.4490T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386161.1:c.4580T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386162.1:c.4460T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386166.1:c.7301T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386167.1:c.1046T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386174.1:c.11042T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386175.1:c.11018T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386186.2:c.4631T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386187.2:c.4511T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020977.5:c.4646T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiac arrhythmia
Synonyms:
Cardiac rhythm disease
Identifiers:
EFO: EFO_0004269; MONDO: MONDO:0007263; MedGen: C0003811; Human Phenotype Ontology: HP:0011675

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000050752Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq
criteria provided, single submitter

(Ng et al. (Circ Cardiovasc Genet. 2013))		Likely benign
(Jun 24, 2013) 		unknownresearch

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

SCV000089864Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust
no classification provided
not providedgermlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only
not providedunknownunknown5not providednot providednot providednot providedresearch

Citations

PubMed

Interpreting secondary cardiac disease variants in an exome cohort.

Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program..

Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16.

PubMed [citation]
PMID:
23861362
PMCID:
PMC3887521

Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes.

Mohler PJ, Le Scouarnec S, Denjoy I, Lowe JS, Guicheney P, Caron L, Driskell IM, Schott JJ, Norris K, Leenhardt A, Kim RB, Escande D, Roden DM.

Circulation. 2007 Jan 30;115(4):432-41. Epub 2007 Jan 22.

PubMed [citation]
PMID:
17242276
See all PubMed Citations (3)

Details of each submission

From Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq, SCV000050752.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided5not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot provided5not providednot providednot provided

From Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust, SCV000089864.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

This variant has been reported as associated with Cardiac arrhythmia in the following publications (PMID:17242276). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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

Last Updated: Oct 13, 2024