NM_001148.6(ANK2):c.615C>T (p.Thr205=) AND Long QT syndrome

Clinical significance:Benign (Last evaluated: Mar 22, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000197605.4

Allele description [Variation Report for NM_001148.6(ANK2):c.615C>T (p.Thr205=)]

NM_001148.6(ANK2):c.615C>T (p.Thr205=)

Gene:
ANK2:ankyrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_001148.6(ANK2):c.615C>T (p.Thr205=)
Other names:
p.T205T:ACC>ACT
HGVS:
  • NC_000004.12:g.113237118C>T
  • NG_009006.2:g.424036C>T
  • NM_001127493.2:c.552C>T
  • NM_001148.6:c.615C>TMANE SELECT
  • NM_001354225.1:c.615C>T
  • NM_001354228.1:c.615C>T
  • NM_001354230.1:c.660C>T
  • NM_001354231.1:c.660C>T
  • NM_001354232.1:c.615C>T
  • NM_001354235.1:c.615C>T
  • NM_001354236.1:c.615C>T
  • NM_001354237.1:c.660C>T
  • NM_001354239.1:c.552C>T
  • NM_001354240.1:c.660C>T
  • NM_001354241.1:c.660C>T
  • NM_001354242.1:c.660C>T
  • NM_001354243.1:c.552C>T
  • NM_001354244.1:c.552C>T
  • NM_001354245.1:c.615C>T
  • NM_001354246.1:c.615C>T
  • NM_001354249.1:c.552C>T
  • NM_001354252.1:c.552C>T
  • NM_001354253.1:c.552C>T
  • NM_001354254.1:c.552C>T
  • NM_001354255.1:c.552C>T
  • NM_001354256.1:c.552C>T
  • NM_001354257.1:c.552C>T
  • NM_001354258.1:c.615C>T
  • NM_001354260.1:c.552C>T
  • NM_001354261.1:c.597C>T
  • NM_001354262.1:c.552C>T
  • NM_001354264.1:c.552C>T
  • NM_001354265.1:c.615C>T
  • NM_001354266.1:c.552C>T
  • NM_001354267.1:c.552C>T
  • NM_001354268.1:c.615C>T
  • NM_001354269.1:c.603C>T
  • NM_001354270.1:c.552C>T
  • NM_001354271.1:c.552C>T
  • NM_001354272.1:c.552C>T
  • NM_001354273.1:c.615C>T
  • NM_001354274.1:c.552C>T
  • NM_001354275.1:c.552C>T
  • NM_001354276.1:c.552C>T
  • NM_001354277.1:c.552C>T
  • NM_020977.4:c.615C>T
  • NP_001120965.1:p.Thr184=
  • NP_001139.3:p.Thr205=
  • NP_001341154.1:p.Thr205=
  • NP_001341157.1:p.Thr205=
  • NP_001341159.1:p.Thr220=
  • NP_001341160.1:p.Thr220=
  • NP_001341161.1:p.Thr205=
  • NP_001341164.1:p.Thr205=
  • NP_001341165.1:p.Thr205=
  • NP_001341166.1:p.Thr220=
  • NP_001341168.1:p.Thr184=
  • NP_001341169.1:p.Thr220=
  • NP_001341170.1:p.Thr220=
  • NP_001341171.1:p.Thr220=
  • NP_001341172.1:p.Thr184=
  • NP_001341173.1:p.Thr184=
  • NP_001341174.1:p.Thr205=
  • NP_001341175.1:p.Thr205=
  • NP_001341178.1:p.Thr184=
  • NP_001341181.1:p.Thr184=
  • NP_001341182.1:p.Thr184=
  • NP_001341183.1:p.Thr184=
  • NP_001341184.1:p.Thr184=
  • NP_001341185.1:p.Thr184=
  • NP_001341186.1:p.Thr184=
  • NP_001341187.1:p.Thr205=
  • NP_001341189.1:p.Thr184=
  • NP_001341190.1:p.Thr199=
  • NP_001341191.1:p.Thr184=
  • NP_001341193.1:p.Thr184=
  • NP_001341194.1:p.Thr205=
  • NP_001341195.1:p.Thr184=
  • NP_001341196.1:p.Thr184=
  • NP_001341197.1:p.Thr205=
  • NP_001341198.1:p.Thr201=
  • NP_001341199.1:p.Thr184=
  • NP_001341200.1:p.Thr184=
  • NP_001341201.1:p.Thr184=
  • NP_001341202.1:p.Thr205=
  • NP_001341203.1:p.Thr184=
  • NP_001341204.1:p.Thr184=
  • NP_001341205.1:p.Thr184=
  • NP_001341206.1:p.Thr184=
  • NP_066187.2:p.Thr205=
  • LRG_327t1:c.615C>T
  • LRG_327:g.424036C>T
  • NC_000004.11:g.114158274C>T
  • NM_001148.4:c.615C>T
Links:
dbSNP: rs587780852
NCBI 1000 Genomes Browser:
rs587780852
Molecular consequence:
  • NM_001127493.2:c.552C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001148.6:c.615C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354225.1:c.615C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354228.1:c.615C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354230.1:c.660C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354231.1:c.660C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354232.1:c.615C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354235.1:c.615C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354236.1:c.615C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354237.1:c.660C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354239.1:c.552C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354240.1:c.660C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354241.1:c.660C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354242.1:c.660C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354243.1:c.552C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354244.1:c.552C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354245.1:c.615C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354246.1:c.615C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354249.1:c.552C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354252.1:c.552C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354253.1:c.552C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354254.1:c.552C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354255.1:c.552C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354256.1:c.552C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354257.1:c.552C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354258.1:c.615C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354260.1:c.552C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354261.1:c.597C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354262.1:c.552C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354264.1:c.552C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354265.1:c.615C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354266.1:c.552C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354267.1:c.552C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354268.1:c.615C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354269.1:c.603C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354270.1:c.552C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354271.1:c.552C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354272.1:c.552C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354273.1:c.615C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354274.1:c.552C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354275.1:c.552C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354276.1:c.552C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354277.1:c.552C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_020977.4:c.615C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Long QT syndrome (LQTS)
Identifiers:
MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976; OMIM: PS192500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000252752Invitaecriteria provided, single submitter
Benign
(Mar 22, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot 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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000252752.5

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

Last Updated: Jun 14, 2021

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