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NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn) AND Long QT syndrome

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Jan 3, 2024
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:
RCV000204635.21

Allele description [Variation Report for NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)]

NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)

Gene:
ANK2:ankyrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)
Other names:
p.T3744N:ACT>AAT
HGVS:
  • NC_000004.12:g.113367764C>A
  • NG_009006.2:g.554682C>A
  • NM_001127493.3:c.4949C>A
  • NM_001148.6:c.11231C>AMANE SELECT
  • NM_001354225.2:c.4988C>A
  • NM_001354228.2:c.4877C>A
  • NM_001354230.2:c.4955C>A
  • NM_001354231.2:c.5018C>A
  • NM_001354232.2:c.5012C>A
  • NM_001354235.2:c.4973C>A
  • NM_001354236.2:c.4874C>A
  • NM_001354237.2:c.5054C>A
  • NM_001354239.2:c.4946C>A
  • NM_001354240.2:c.5021C>A
  • NM_001354241.2:c.5021C>A
  • NM_001354242.2:c.5018C>A
  • NM_001354243.2:c.4913C>A
  • NM_001354244.2:c.4910C>A
  • NM_001354245.2:c.4814C>A
  • NM_001354246.2:c.4973C>A
  • NM_001354249.2:c.4790C>A
  • NM_001354252.2:c.4946C>A
  • NM_001354253.2:c.4751C>A
  • NM_001354254.2:c.4925C>A
  • NM_001354255.2:c.4913C>A
  • NM_001354256.2:c.4910C>A
  • NM_001354257.2:c.4715C>A
  • NM_001354258.2:c.4877C>A
  • NM_001354260.2:c.4691C>A
  • NM_001354261.2:c.4835C>A
  • NM_001354262.2:c.4814C>A
  • NM_001354264.2:c.4811C>A
  • NM_001354265.2:c.4973C>A
  • NM_001354266.2:c.4790C>A
  • NM_001354267.2:c.4790C>A
  • NM_001354268.2:c.4778C>A
  • NM_001354269.3:c.4763C>A
  • NM_001354270.2:c.4751C>A
  • NM_001354271.2:c.4691C>A
  • NM_001354272.2:c.4847C>A
  • NM_001354273.2:c.4676C>A
  • NM_001354274.2:c.4742C>A
  • NM_001354275.2:c.4814C>A
  • NM_001354276.2:c.4790C>A
  • NM_001354277.2:c.4592C>A
  • NM_001354278.2:c.2504C>A
  • NM_001354279.2:c.2540C>A
  • NM_001354280.2:c.2525C>A
  • NM_001354281.2:c.2504C>A
  • NM_001354282.2:c.2540C>A
  • NM_001386142.1:c.10997C>A
  • NM_001386143.1:c.4913C>A
  • NM_001386144.1:c.5021C>A
  • NM_001386146.1:c.4757C>A
  • NM_001386147.1:c.4802C>A
  • NM_001386148.2:c.4961C>A
  • NM_001386149.1:c.4757C>A
  • NM_001386150.1:c.4757C>A
  • NM_001386151.1:c.4691C>A
  • NM_001386152.1:c.5033C>A
  • NM_001386153.1:c.4757C>A
  • NM_001386154.1:c.4742C>A
  • NM_001386156.1:c.4715C>A
  • NM_001386157.1:c.4592C>A
  • NM_001386158.1:c.4493C>A
  • NM_001386160.1:c.4820C>A
  • NM_001386161.1:c.4910C>A
  • NM_001386162.1:c.4790C>A
  • NM_001386166.1:c.7631C>A
  • NM_001386167.1:c.1376C>A
  • NM_001386174.1:c.11372C>A
  • NM_001386175.1:c.11348C>A
  • NM_001386186.2:c.4961C>A
  • NM_001386187.2:c.4841C>A
  • NM_020977.5:c.4976C>A
  • NP_001120965.1:p.Thr1650Asn
  • NP_001139.3:p.Thr3744Asn
  • NP_001341154.1:p.Thr1663Asn
  • NP_001341157.1:p.Thr1626Asn
  • NP_001341159.1:p.Thr1652Asn
  • NP_001341160.1:p.Thr1673Asn
  • NP_001341161.1:p.Thr1671Asn
  • NP_001341164.1:p.Thr1658Asn
  • NP_001341165.1:p.Thr1625Asn
  • NP_001341166.1:p.Thr1685Asn
  • NP_001341168.1:p.Thr1649Asn
  • NP_001341169.1:p.Thr1674Asn
  • NP_001341170.1:p.Thr1674Asn
  • NP_001341171.1:p.Thr1673Asn
  • NP_001341172.1:p.Thr1638Asn
  • NP_001341173.1:p.Thr1637Asn
  • NP_001341174.1:p.Thr1605Asn
  • NP_001341175.1:p.Thr1658Asn
  • NP_001341178.1:p.Thr1597Asn
  • NP_001341181.1:p.Thr1649Asn
  • NP_001341182.1:p.Thr1584Asn
  • NP_001341183.1:p.Thr1642Asn
  • NP_001341184.1:p.Thr1638Asn
  • NP_001341185.1:p.Thr1637Asn
  • NP_001341186.1:p.Thr1572Asn
  • NP_001341187.1:p.Thr1626Asn
  • NP_001341189.1:p.Thr1564Asn
  • NP_001341190.1:p.Thr1612Asn
  • NP_001341191.1:p.Thr1605Asn
  • NP_001341193.1:p.Thr1604Asn
  • NP_001341194.1:p.Thr1658Asn
  • NP_001341195.1:p.Thr1597Asn
  • NP_001341196.1:p.Thr1597Asn
  • NP_001341197.1:p.Thr1593Asn
  • NP_001341198.1:p.Thr1588Asn
  • NP_001341199.1:p.Thr1584Asn
  • NP_001341200.1:p.Thr1564Asn
  • NP_001341201.1:p.Thr1616Asn
  • NP_001341202.1:p.Thr1559Asn
  • NP_001341203.1:p.Thr1581Asn
  • NP_001341204.1:p.Thr1605Asn
  • NP_001341205.1:p.Thr1597Asn
  • NP_001341206.1:p.Thr1531Asn
  • NP_001341207.1:p.Thr835Asn
  • NP_001341208.1:p.Thr847Asn
  • NP_001341209.1:p.Thr842Asn
  • NP_001341210.1:p.Thr835Asn
  • NP_001341211.1:p.Thr847Asn
  • NP_001373071.1:p.Thr3666Asn
  • NP_001373072.1:p.Thr1638Asn
  • NP_001373073.1:p.Thr1674Asn
  • NP_001373075.1:p.Thr1586Asn
  • NP_001373076.1:p.Thr1601Asn
  • NP_001373077.1:p.Thr1654Asn
  • NP_001373078.1:p.Thr1586Asn
  • NP_001373079.1:p.Thr1586Asn
  • NP_001373080.1:p.Thr1564Asn
  • NP_001373081.1:p.Thr1678Asn
  • NP_001373082.1:p.Thr1586Asn
  • NP_001373083.1:p.Thr1581Asn
  • NP_001373085.1:p.Thr1572Asn
  • NP_001373086.1:p.Thr1531Asn
  • NP_001373087.1:p.Thr1498Asn
  • NP_001373089.1:p.Thr1607Asn
  • NP_001373090.1:p.Thr1637Asn
  • NP_001373091.1:p.Thr1597Asn
  • NP_001373095.1:p.Thr2544Asn
  • NP_001373096.1:p.Thr459Asn
  • NP_001373103.1:p.Thr3791Asn
  • NP_001373104.1:p.Thr3783Asn
  • NP_001373115.1:p.Thr1654Asn
  • NP_001373116.1:p.Thr1614Asn
  • NP_066187.2:p.Thr1659Asn
  • LRG_327t1:c.11231C>A
  • LRG_327:g.554682C>A
  • NC_000004.11:g.114288920C>A
  • NM_001148.4:c.11231C>A
  • NM_001148.5:c.11231C>A
  • Q01484:p.Thr3744Asn
Protein change:
T1498N; THR1626ASN
Links:
UniProtKB: Q01484#VAR_022936; OMIM: 106410.0002; dbSNP: rs121912705
NCBI 1000 Genomes Browser:
rs121912705
Molecular consequence:
  • NM_001127493.3:c.4949C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001148.6:c.11231C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354225.2:c.4988C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354228.2:c.4877C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354230.2:c.4955C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354231.2:c.5018C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354232.2:c.5012C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354235.2:c.4973C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354236.2:c.4874C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354237.2:c.5054C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354239.2:c.4946C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354240.2:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354241.2:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354242.2:c.5018C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354243.2:c.4913C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354244.2:c.4910C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354245.2:c.4814C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354246.2:c.4973C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354249.2:c.4790C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354252.2:c.4946C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354253.2:c.4751C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354254.2:c.4925C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354255.2:c.4913C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354256.2:c.4910C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354257.2:c.4715C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354258.2:c.4877C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354260.2:c.4691C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354261.2:c.4835C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354262.2:c.4814C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354264.2:c.4811C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354265.2:c.4973C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354266.2:c.4790C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354267.2:c.4790C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354268.2:c.4778C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354269.3:c.4763C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354270.2:c.4751C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354271.2:c.4691C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354272.2:c.4847C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354273.2:c.4676C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354274.2:c.4742C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354275.2:c.4814C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354276.2:c.4790C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354277.2:c.4592C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354278.2:c.2504C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354279.2:c.2540C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354280.2:c.2525C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354281.2:c.2504C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354282.2:c.2540C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386142.1:c.10997C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386143.1:c.4913C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386144.1:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386146.1:c.4757C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386147.1:c.4802C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386148.2:c.4961C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386149.1:c.4757C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386150.1:c.4757C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386151.1:c.4691C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386152.1:c.5033C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386153.1:c.4757C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386154.1:c.4742C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386156.1:c.4715C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386157.1:c.4592C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386158.1:c.4493C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386160.1:c.4820C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386161.1:c.4910C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386162.1:c.4790C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386166.1:c.7631C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386167.1:c.1376C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386174.1:c.11372C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386175.1:c.11348C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386186.2:c.4961C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386187.2:c.4841C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020977.5:c.4976C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Long QT syndrome (LQTS)
Identifiers:
MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000260737Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely benign
(Jan 3, 2024) 		germlineclinical testing

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

SCV000263782Blueprint Genetics
criteria provided, single submitter

(Variant Classification)		Uncertain significance
(Feb 25, 2015) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

A cardiac arrhythmia syndrome caused by loss of ankyrin-B function.

Mohler PJ, Splawski I, Napolitano C, Bottelli G, Sharpe L, Timothy K, Priori SG, Keating MT, Bennett V.

Proc Natl Acad Sci U S A. 2004 Jun 15;101(24):9137-42. Epub 2004 Jun 3.

PubMed [citation]
PMID:
15178757
PMCID:
PMC428486

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000260737.9

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

From Blueprint Genetics, SCV000263782.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 10, 2024