NM_001148.6(ANK2):c.10395G>A (p.Glu3465=) AND Long QT syndrome

Clinical significance:Benign (Last evaluated: Dec 7, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000204743.10

Allele description [Variation Report for NM_001148.6(ANK2):c.10395G>A (p.Glu3465=)]

NM_001148.6(ANK2):c.10395G>A (p.Glu3465=)

Gene:
ANK2:ankyrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_001148.6(ANK2):c.10395G>A (p.Glu3465=)
HGVS:
  • NC_000004.12:g.113359013G>A
  • NG_009006.2:g.545931G>A
  • NM_001127493.2:c.4400-1810G>A
  • NM_001148.6:c.10395G>AMANE SELECT
  • NM_001354225.1:c.4439-1810G>A
  • NM_001354228.1:c.4328-1810G>A
  • NM_001354230.1:c.4406-1810G>A
  • NM_001354231.1:c.4469-1810G>A
  • NM_001354232.1:c.4463-1810G>A
  • NM_001354235.1:c.4424-1810G>A
  • NM_001354236.1:c.4325-1810G>A
  • NM_001354237.1:c.4505-1810G>A
  • NM_001354239.1:c.4397-1810G>A
  • NM_001354240.1:c.4472-1810G>A
  • NM_001354241.1:c.4472-1810G>A
  • NM_001354242.1:c.4469-1810G>A
  • NM_001354243.1:c.4364-1810G>A
  • NM_001354244.1:c.4361-1810G>A
  • NM_001354245.1:c.4265-1810G>A
  • NM_001354246.1:c.4424-1810G>A
  • NM_001354249.1:c.4241-1810G>A
  • NM_001354252.1:c.4397-1810G>A
  • NM_001354253.1:c.4202-1810G>A
  • NM_001354254.1:c.4376-1810G>A
  • NM_001354255.1:c.4364-1810G>A
  • NM_001354256.1:c.4361-1810G>A
  • NM_001354257.1:c.4166-1810G>A
  • NM_001354258.1:c.4328-1810G>A
  • NM_001354260.1:c.4142-1810G>A
  • NM_001354261.1:c.4286-1810G>A
  • NM_001354262.1:c.4265-1810G>A
  • NM_001354264.1:c.4262-1810G>A
  • NM_001354265.1:c.4424-1810G>A
  • NM_001354266.1:c.4241-1810G>A
  • NM_001354267.1:c.4241-1810G>A
  • NM_001354268.1:c.4229-1810G>A
  • NM_001354269.1:c.4214-1810G>A
  • NM_001354270.1:c.4202-1810G>A
  • NM_001354271.1:c.4142-1810G>A
  • NM_001354272.1:c.4298-1810G>A
  • NM_001354273.1:c.4127-1810G>A
  • NM_001354274.1:c.4193-1810G>A
  • NM_001354275.1:c.4265-1810G>A
  • NM_001354276.1:c.4241-1810G>A
  • NM_001354277.1:c.4043-1810G>A
  • NM_001354278.1:c.1955-1810G>A
  • NM_001354279.1:c.1991-1810G>A
  • NM_001354280.1:c.1976-1810G>A
  • NM_001354281.1:c.1955-1810G>A
  • NM_001354282.1:c.1991-1810G>A
  • NM_020977.4:c.4427-1810G>A
  • NP_001139.3:p.Glu3465=
  • LRG_327t1:c.10395G>A
  • LRG_327:g.545931G>A
  • NC_000004.11:g.114280169G>A
  • NM_001148.4:c.10395G>A
Links:
dbSNP: rs147423696
NCBI 1000 Genomes Browser:
rs147423696
Molecular consequence:
  • NM_001127493.2:c.4400-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354225.1:c.4439-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354228.1:c.4328-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354230.1:c.4406-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354231.1:c.4469-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354232.1:c.4463-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354235.1:c.4424-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354236.1:c.4325-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354237.1:c.4505-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354239.1:c.4397-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354240.1:c.4472-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354241.1:c.4472-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354242.1:c.4469-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354243.1:c.4364-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354244.1:c.4361-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354245.1:c.4265-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354246.1:c.4424-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354249.1:c.4241-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354252.1:c.4397-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354253.1:c.4202-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354254.1:c.4376-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354255.1:c.4364-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354256.1:c.4361-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354257.1:c.4166-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354258.1:c.4328-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354260.1:c.4142-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354261.1:c.4286-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354262.1:c.4265-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354264.1:c.4262-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354265.1:c.4424-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354266.1:c.4241-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354267.1:c.4241-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354268.1:c.4229-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354269.1:c.4214-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354270.1:c.4202-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354271.1:c.4142-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354272.1:c.4298-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354273.1:c.4127-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354274.1:c.4193-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354275.1:c.4265-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354276.1:c.4241-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354277.1:c.4043-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354278.1:c.1955-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354279.1:c.1991-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354280.1:c.1976-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354281.1:c.1955-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354282.1:c.1991-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020977.4:c.4427-1810G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001148.6:c.10395G>A - 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
SCV000261311Invitaecriteria provided, single submitter
Benign
(Dec 7, 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, SCV000261311.8

#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: Aug 17, 2021

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