NM_001148.6(ANK2):c.8843C>G (p.Ala2948Gly) AND Cardiovascular phenotype

Clinical significance:Likely benign (Last evaluated: Apr 19, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000620461.2

Allele description [Variation Report for NM_001148.6(ANK2):c.8843C>G (p.Ala2948Gly)]

NM_001148.6(ANK2):c.8843C>G (p.Ala2948Gly)

Gene:
ANK2:ankyrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_001148.6(ANK2):c.8843C>G (p.Ala2948Gly)
HGVS:
  • NC_000004.12:g.113357461C>G
  • NG_009006.2:g.544379C>G
  • NM_001127493.2:c.4400-3362C>G
  • NM_001148.6:c.8843C>GMANE SELECT
  • NM_001354225.1:c.4439-3362C>G
  • NM_001354228.1:c.4328-3362C>G
  • NM_001354230.1:c.4406-3362C>G
  • NM_001354231.1:c.4469-3362C>G
  • NM_001354232.1:c.4463-3362C>G
  • NM_001354235.1:c.4424-3362C>G
  • NM_001354236.1:c.4325-3362C>G
  • NM_001354237.1:c.4505-3362C>G
  • NM_001354239.1:c.4397-3362C>G
  • NM_001354240.1:c.4472-3362C>G
  • NM_001354241.1:c.4472-3362C>G
  • NM_001354242.1:c.4469-3362C>G
  • NM_001354243.1:c.4364-3362C>G
  • NM_001354244.1:c.4361-3362C>G
  • NM_001354245.1:c.4265-3362C>G
  • NM_001354246.1:c.4424-3362C>G
  • NM_001354249.1:c.4241-3362C>G
  • NM_001354252.1:c.4397-3362C>G
  • NM_001354253.1:c.4202-3362C>G
  • NM_001354254.1:c.4376-3362C>G
  • NM_001354255.1:c.4364-3362C>G
  • NM_001354256.1:c.4361-3362C>G
  • NM_001354257.1:c.4166-3362C>G
  • NM_001354258.1:c.4328-3362C>G
  • NM_001354260.1:c.4142-3362C>G
  • NM_001354261.1:c.4286-3362C>G
  • NM_001354262.1:c.4265-3362C>G
  • NM_001354264.1:c.4262-3362C>G
  • NM_001354265.1:c.4424-3362C>G
  • NM_001354266.1:c.4241-3362C>G
  • NM_001354267.1:c.4241-3362C>G
  • NM_001354268.1:c.4229-3362C>G
  • NM_001354269.1:c.4214-3362C>G
  • NM_001354270.1:c.4202-3362C>G
  • NM_001354271.1:c.4142-3362C>G
  • NM_001354272.1:c.4298-3362C>G
  • NM_001354273.1:c.4127-3362C>G
  • NM_001354274.1:c.4193-3362C>G
  • NM_001354275.1:c.4265-3362C>G
  • NM_001354276.1:c.4241-3362C>G
  • NM_001354277.1:c.4043-3362C>G
  • NM_001354278.1:c.1955-3362C>G
  • NM_001354279.1:c.1991-3362C>G
  • NM_001354280.1:c.1976-3362C>G
  • NM_001354281.1:c.1955-3362C>G
  • NM_001354282.1:c.1991-3362C>G
  • NM_020977.4:c.4427-3362C>G
  • NP_001139.3:p.Ala2948Gly
  • LRG_327t1:c.8843C>G
  • LRG_327:g.544379C>G
  • NC_000004.11:g.114278617C>G
  • NM_001148.4:c.8843C>G
Protein change:
A2948G
Links:
dbSNP: rs138438183
NCBI 1000 Genomes Browser:
rs138438183
Molecular consequence:
  • NM_001127493.2:c.4400-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354225.1:c.4439-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354228.1:c.4328-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354230.1:c.4406-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354231.1:c.4469-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354232.1:c.4463-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354235.1:c.4424-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354236.1:c.4325-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354237.1:c.4505-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354239.1:c.4397-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354240.1:c.4472-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354241.1:c.4472-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354242.1:c.4469-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354243.1:c.4364-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354244.1:c.4361-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354245.1:c.4265-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354246.1:c.4424-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354249.1:c.4241-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354252.1:c.4397-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354253.1:c.4202-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354254.1:c.4376-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354255.1:c.4364-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354256.1:c.4361-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354257.1:c.4166-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354258.1:c.4328-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354260.1:c.4142-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354261.1:c.4286-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354262.1:c.4265-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354264.1:c.4262-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354265.1:c.4424-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354266.1:c.4241-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354267.1:c.4241-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354268.1:c.4229-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354269.1:c.4214-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354270.1:c.4202-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354271.1:c.4142-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354272.1:c.4298-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354273.1:c.4127-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354274.1:c.4193-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354275.1:c.4265-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354276.1:c.4241-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354277.1:c.4043-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354278.1:c.1955-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354279.1:c.1991-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354280.1:c.1976-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354281.1:c.1955-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354282.1:c.1991-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020977.4:c.4427-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001148.6:c.8843C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000737637Ambry Geneticscriteria provided, single submitter
Likely benign
(Apr 19, 2018)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome.

Allegue C, Coll M, Mates J, Campuzano O, Iglesias A, Sobrino B, Brion M, Amigo J, Carracedo A, Brugada P, Brugada J, Brugada R.

PLoS One. 2015;10(7):e0133037. doi: 10.1371/journal.pone.0133037.

PubMed [citation]
PMID:
26230511
PMCID:
PMC4521779

Details of each submission

From Ambry Genetics, SCV000737637.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

In silico models in agreement (benign);Other data supporting benign classification

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 12, 2021

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